chr9:130872896:C>T Detail (hg38) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,748,283-133,748,283 View the variant detail on this assembly version. |
| hg38 | chr9:130,872,896-130,872,896 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007313.2:c.1001C>T | NP_009297.2:p.Thr334Ile |
| NM_005157.5:c.944C>T | NP_005148.2:p.Thr315Ile | |
| Ensemble | ENST00000372348.9:c.1001C>T | ENST00000372348.9:p.Thr334Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Likely pathogenic; association |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-03-05 | no assertion criteria provided | Leukemia, Philadelphia chromosome-positive, resistant to imatinib |
germline
|
Detail |
| Likely pathogenic; association | 2023-09-13 | criteria provided, multiple submitters, no conflicts | chronic myelogenous leukemia, BCR-ABL1 positive |
germline
somatic
|
Detail |
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Lymphoblastic leukemia, acute, with lymphomatous features |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | chronic eosinophilic leukemia | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... | BeFree | 25431951 | Detail |
| <0.001 | hypereosinophilic syndrome | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... | BeFree | 25431951 | Detail |
| <0.001 | disseminated eosinophilic collagen disease | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... | BeFree | 25431951 | Detail |
| <0.001 | Idiopathic hypereosinophilic syndrome | Resistance to imatinib in HES/CEL has been described mainly due to the T674I mut... | BeFree | 25431951 | Detail |
| 0.089 | leukemia | The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leu... | BeFree | 15194504 | Detail |
| 0.012 | Leukemogenesis | Furthermore, pharmacologic doses of FTY720 remarkably suppress in vivo p210/p190... | BeFree | 17717597 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | We recently showed that inhibition of heat shock protein 90 (Hsp90) by a novel H... | BeFree | 17671436 | Detail |
| 0.002 | Leukemogenesis | Furthermore, pharmacologic doses of FTY720 remarkably suppress in vivo p210/p190... | BeFree | 17717597 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Treatment with these inhibitors results in potent suppression of chronic myeloid... | BeFree | 22021366 | Detail |
| 0.064 | Acute lymphocytic leukemia | The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for... | BeFree | 22587422 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | In this study, we show that human homolog double minute 2 (HDM2) inhibition, wit... | BeFree | 21350558 | Detail |
| 0.024 | Myeloid Leukemia, Chronic | In this study, we show that human homolog double minute 2 (HDM2) inhibition, wit... | BeFree | 21350558 | Detail |
| 0.033 | Blast Phase | Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... | BeFree | 21527515 | Detail |
| 0.004 | leukemia | Here we combine comprehensive drug sensitivity and resistance profiling of patie... | BeFree | 25686603 | Detail |
| 0.089 | leukemia | Given the fact that all AKIs fail to inhibit BCR/ABL harboring the 'gatekeeper' ... | BeFree | 22985168 | Detail |
| 0.089 | leukemia | Allogeneic stem cell transplantation for patients harboring T315I BCR-ABL mutate... | BeFree | 21926354 | Detail |
| <0.001 | refractory CML | The leading third-generation clinical candidate for treatment-refractory CML, in... | BeFree | 21098337 | Detail |
| 0.089 | leukemia | PF-114, a potent and selective inhibitor of native and mutated BCR/ABL is active... | BeFree | 25394714 | Detail |
| 0.396 | Myeloid Leukemia, Chronic | The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors cur... | BeFree | 21486895 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | BMS-214662 was cytotoxic against CML blast crisis stem/progenitor cells, particu... | BeFree | 18156496 | Detail |
| 0.052 | leukemia | Here we combine comprehensive drug sensitivity and resistance profiling of patie... | BeFree | 25686603 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The T315I BCR-ABL mutation in chronic myelogenous leukemia (CML) patients is res... | BeFree | 22262141 | Detail |
| <0.001 | Blast Phase | Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... | BeFree | 21527515 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Chronic myeloid leukemia (CML) patients with the BCR-ABL T315I mutation do not b... | BeFree | 22896000 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The BCR-ABL T315I mutation confers resistance to currently licensed tyrosine kin... | BeFree | 23716543 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The aim of this study was to evaluate proliferation inhibition and apoptosis ind... | BeFree | 24004697 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The homoharringtonine derivative omacetaxine mepesuccinate, which inhibits prote... | BeFree | 23187745 | Detail |
| 0.064 | Acute lymphocytic leukemia | This cell line may provide a useful model for in vitro and in vivo cellular and ... | BeFree | 20471447 | Detail |
| 0.005 | Blast Phase | Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... | BeFree | 21527515 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Analysis of mutations in the BCR-ABL1 kinase domain, using direct sequencing: de... | BeFree | 22489663 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Extensive analysis of the T315I substitution and detection of additional ABL mut... | BeFree | 20929330 | Detail |
| 0.184 | Precursor Cell Lymphoblastic Leukemia Lymphoma | This cell line may provide a useful model for in vitro and in vivo cellular and ... | BeFree | 20471447 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44... | BeFree | 22772060 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors cur... | BeFree | 21486895 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The T315I mutation of BCR/ABL gene is known to produce complete resistance of ch... | BeFree | 20657522 | Detail |
| 0.184 | Precursor Cell Lymphoblastic Leukemia Lymphoma | MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid le... | BeFree | 16990603 | Detail |
| 0.184 | Precursor Cell Lymphoblastic Leukemia Lymphoma | The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for... | BeFree | 22587422 | Detail |
| 0.033 | Blast Phase | Adults with Ph+ chronic phase (CP)-, accelerated phase (AP)- or blast phase (BP)... | BeFree | 25127392 | Detail |
| 0.019 | Philadelphia chromosome positive | PF-114, a potent and selective inhibitor of native and mutated BCR/ABL is active... | BeFree | 25394714 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Stem cell transplantation for patients with chronic myeloid leukemia resistant t... | BeFree | 20564073 | Detail |
| 0.007 | Philadelphia chromosome positive | Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that su... | BeFree | 25132497 | Detail |
| 0.010 | Blast Phase | In this study, we show that human homolog double minute 2 (HDM2) inhibition, wit... | BeFree | 21350558 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Assessment and follow-up of the proportion of T315I mutant BCR-ABL transcripts c... | BeFree | 16038734 | Detail |
| 0.020 | Philadelphia chromosome-positive acute lymphoblastic leukemia | A phase 2 study of MK-0457 in patients with BCR-ABL T315I mutant chronic myeloge... | BeFree | 25127392 | Detail |
| 0.004 | leukemia | We recently showed that inhibition of heat shock protein 90 (Hsp90) by a novel H... | BeFree | 17671436 | Detail |
| 0.089 | leukemia | MK-0457, an Aurora kinase and BCR-ABL inhibitor, is active in patients with BCR-... | BeFree | 22772060 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | AP24534, a pan-BCR-ABL inhibitor for chronic myeloid leukemia, potently inhibits... | BeFree | 19878872 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Bosutinib has shown activity against all phases of resistant chronic myeloid leu... | BeFree | 24490604 | Detail |
| <0.001 | Xenograft Model | In BCR/ABL- or BCR/ABL-T315I-driven murine leukemia as well as in xenograft mode... | BeFree | 25394714 | Detail |
| 0.010 | Leukemia, Myeloid, Chronic-Phase | The durable clearance of the T315I BCR-ABL mutated clone in chronic phase chroni... | BeFree | 21030353 | Detail |
| <0.001 | Blast Phase | Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... | BeFree | 21527515 | Detail |
| 0.089 | leukemia | Ponatinib was highly active in heavily pretreated patients with Ph-positive leuk... | BeFree | 23190221 | Detail |
| 0.064 | Acute lymphocytic leukemia | MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid le... | BeFree | 16990603 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Thus, a third-generation ABL TKI, ponatinib, was developed to inhibit all mutate... | BeFree | 24258348 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The second-generation BCR-ABL inhibitors nilotinib (Tasigna; Novartis) and dasat... | BeFree | 17853901 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | A phase 2 study of MK-0457 in patients with BCR-ABL T315I mutant chronic myeloge... | BeFree | 25127392 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Epidemiologic study on survival of chronic myeloid leukemia and Ph(+) acute lymp... | BeFree | 19843886 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | T315I mutation of the ABL-kinase domain in chronic myeloid leukemia (CML) confer... | BeFree | 20963643 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid le... | BeFree | 16990603 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | The quantitative level of T315I mutated BCR-ABL predicts for major molecular res... | BeFree | 23065514 | Detail |
| 0.020 | Philadelphia chromosome-positive acute lymphoblastic leukemia | One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was t... | BeFree | 25894969 | Detail |
| 0.089 | leukemia | Here we combine comprehensive drug sensitivity and resistance profiling of patie... | BeFree | 25686603 | Detail |
| 0.020 | Philadelphia chromosome-positive acute lymphoblastic leukemia | Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44... | BeFree | 22772060 | Detail |
| <0.001 | Philadelphia chromosome-positive acute lymphoblastic leukemia | One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was t... | BeFree | 25894969 | Detail |
| 0.019 | Philadelphia chromosome positive | Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that su... | BeFree | 25132497 | Detail |
| 0.396 | Myeloid Leukemia, Chronic | It has been shown that the occurrence of the BCR-ABL1 T315I mutation leads to a ... | BeFree | 22489663 | Detail |
| 0.371 | Myeloid Leukemia, Chronic | Therapeutic options against BCR-ABL1 T315I-positive chronic myelogenous leukemia... | BeFree | 18628453 | Detail |
| 0.089 | leukemia | Thus, sorafenib may provide an effective therapeutic measure to treat Ph+ leukem... | BeFree | 19366808 | Detail |
| 0.020 | Philadelphia chromosome-positive acute lymphoblastic leukemia | T315I mutation in BCR-ABL causes resistance to therapy with tyrosine kinase inhi... | BeFree | 22593461 | Detail |
| 0.003 | Myeloid Leukemia, Chronic | In this study, we show that human homolog double minute 2 (HDM2) inhibition, wit... | BeFree | 21350558 | Detail |
| <0.001 | Blast Phase | Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... | BeFree | 21527515 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) AND Leukemia, Philadelphia chromosome-positive, resistant t... | ClinVar | Detail |
| NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) AND Chronic myelogenous leukemia, BCR-ABL1 positive | ClinVar | Detail |
| NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) AND Lymphoblastic leukemia, acute, with lymphomatous featur... | ClinVar | Detail |
| Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... | DisGeNET | Detail |
| Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... | DisGeNET | Detail |
| Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... | DisGeNET | Detail |
| Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGF... | DisGeNET | Detail |
| The resistance to the tyrosine kinase inhibitor imatinib in BCR/ABL-positive leukemias is mostly ass... | DisGeNET | Detail |
| Furthermore, pharmacologic doses of FTY720 remarkably suppress in vivo p210/p190(BCR/ABL)-driven [in... | DisGeNET | Detail |
| We recently showed that inhibition of heat shock protein 90 (Hsp90) by a novel Hsp90 inhibitor, IPI-... | DisGeNET | Detail |
| Furthermore, pharmacologic doses of FTY720 remarkably suppress in vivo p210/p190(BCR/ABL)-driven [in... | DisGeNET | Detail |
| Treatment with these inhibitors results in potent suppression of chronic myeloid leukemia leukemic p... | DisGeNET | Detail |
| The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positi... | DisGeNET | Detail |
| In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel com... | DisGeNET | Detail |
| In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel com... | DisGeNET | Detail |
| Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... | DisGeNET | Detail |
| Here we combine comprehensive drug sensitivity and resistance profiling of patient cells ex vivo wit... | DisGeNET | Detail |
| Given the fact that all AKIs fail to inhibit BCR/ABL harboring the 'gatekeeper' mutation T315I, we i... | DisGeNET | Detail |
| Allogeneic stem cell transplantation for patients harboring T315I BCR-ABL mutated leukemias. | DisGeNET | Detail |
| The leading third-generation clinical candidate for treatment-refractory CML, including patients wit... | DisGeNET | Detail |
| PF-114, a potent and selective inhibitor of native and mutated BCR/ABL is active against Philadelphi... | DisGeNET | Detail |
| The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors currently available for... | DisGeNET | Detail |
| BMS-214662 was cytotoxic against CML blast crisis stem/progenitor cells, particularly in combination... | DisGeNET | Detail |
| Here we combine comprehensive drug sensitivity and resistance profiling of patient cells ex vivo wit... | DisGeNET | Detail |
| The T315I BCR-ABL mutation in chronic myelogenous leukemia (CML) patients is responsible for up to 2... | DisGeNET | Detail |
| Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... | DisGeNET | Detail |
| Chronic myeloid leukemia (CML) patients with the BCR-ABL T315I mutation do not benefit from therapy ... | DisGeNET | Detail |
| The BCR-ABL T315I mutation confers resistance to currently licensed tyrosine kinase inhibitors in ch... | DisGeNET | Detail |
| The aim of this study was to evaluate proliferation inhibition and apoptosis induction by down-regul... | DisGeNET | Detail |
| The homoharringtonine derivative omacetaxine mepesuccinate, which inhibits protein synthesis, has al... | DisGeNET | Detail |
| This cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of... | DisGeNET | Detail |
| Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... | DisGeNET | Detail |
| Analysis of mutations in the BCR-ABL1 kinase domain, using direct sequencing: detection of the T315I... | DisGeNET | Detail |
| Extensive analysis of the T315I substitution and detection of additional ABL mutations in progenitor... | DisGeNET | Detail |
| This cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of... | DisGeNET | Detail |
| Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44%) had hematologic r... | DisGeNET | Detail |
| The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors currently available for... | DisGeNET | Detail |
| The T315I mutation of BCR/ABL gene is known to produce complete resistance of chronic myelogenous le... | DisGeNET | Detail |
| MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymp... | DisGeNET | Detail |
| The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positi... | DisGeNET | Detail |
| Adults with Ph+ chronic phase (CP)-, accelerated phase (AP)- or blast phase (BP)-CML, or ALL and doc... | DisGeNET | Detail |
| PF-114, a potent and selective inhibitor of native and mutated BCR/ABL is active against Philadelphi... | DisGeNET | Detail |
| Stem cell transplantation for patients with chronic myeloid leukemia resistant to tyrosine kinase in... | DisGeNET | Detail |
| Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that suppresses all BCR-ABL... | DisGeNET | Detail |
| In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel com... | DisGeNET | Detail |
| Assessment and follow-up of the proportion of T315I mutant BCR-ABL transcripts can guide appropriate... | DisGeNET | Detail |
| A phase 2 study of MK-0457 in patients with BCR-ABL T315I mutant chronic myelogenous leukemia and ph... | DisGeNET | Detail |
| We recently showed that inhibition of heat shock protein 90 (Hsp90) by a novel Hsp90 inhibitor, IPI-... | DisGeNET | Detail |
| MK-0457, an Aurora kinase and BCR-ABL inhibitor, is active in patients with BCR-ABL T315I leukemia. | DisGeNET | Detail |
| AP24534, a pan-BCR-ABL inhibitor for chronic myeloid leukemia, potently inhibits the T315I mutant an... | DisGeNET | Detail |
| Bosutinib has shown activity against all phases of resistant chronic myeloid leukemia that do not ha... | DisGeNET | Detail |
| In BCR/ABL- or BCR/ABL-T315I-driven murine leukemia as well as in xenograft models of primary Ph+ le... | DisGeNET | Detail |
| The durable clearance of the T315I BCR-ABL mutated clone in chronic phase chronic myelogenous leukem... | DisGeNET | Detail |
| Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... | DisGeNET | Detail |
| Ponatinib was highly active in heavily pretreated patients with Ph-positive leukemias with resistanc... | DisGeNET | Detail |
| MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymp... | DisGeNET | Detail |
| Thus, a third-generation ABL TKI, ponatinib, was developed to inhibit all mutated BCR-ABL and showed... | DisGeNET | Detail |
| The second-generation BCR-ABL inhibitors nilotinib (Tasigna; Novartis) and dasatinib (Sprycel; Brist... | DisGeNET | Detail |
| A phase 2 study of MK-0457 in patients with BCR-ABL T315I mutant chronic myelogenous leukemia and ph... | DisGeNET | Detail |
| Epidemiologic study on survival of chronic myeloid leukemia and Ph(+) acute lymphoblastic leukemia p... | DisGeNET | Detail |
| T315I mutation of the ABL-kinase domain in chronic myeloid leukemia (CML) confers resistance to imat... | DisGeNET | Detail |
| MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymp... | DisGeNET | Detail |
| The quantitative level of T315I mutated BCR-ABL predicts for major molecular response to second-line... | DisGeNET | Detail |
| One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was treated with ponatini... | DisGeNET | Detail |
| Here we combine comprehensive drug sensitivity and resistance profiling of patient cells ex vivo wit... | DisGeNET | Detail |
| Eight of 18 patients with BCR-ABL T315I-mutated chronic myelogenous leukemia (44%) had hematologic r... | DisGeNET | Detail |
| One patient with lymphoid BC/Ph+ ALL who harbored a T315I ABL mutation and was treated with ponatini... | DisGeNET | Detail |
| Ponatinib is the only currently approved tyrosine kinase inhibitor (TKI) that suppresses all BCR-ABL... | DisGeNET | Detail |
| It has been shown that the occurrence of the BCR-ABL1 T315I mutation leads to a very poor therapeuti... | DisGeNET | Detail |
| Therapeutic options against BCR-ABL1 T315I-positive chronic myelogenous leukemia. | DisGeNET | Detail |
| Thus, sorafenib may provide an effective therapeutic measure to treat Ph+ leukemias, particularly th... | DisGeNET | Detail |
| T315I mutation in BCR-ABL causes resistance to therapy with tyrosine kinase inhibitors (TKIs) in Phi... | DisGeNET | Detail |
| In this study, we show that human homolog double minute 2 (HDM2) inhibition, with MI-219-a novel com... | DisGeNET | Detail |
| Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs121913459 dbSNP
- Genome
- hg38
- Position
- chr9:130,872,896-130,872,896
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser