chr11:534288:C>T Detail (hg38) (HRAS, LRRC56)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:534,288-534,288 View the variant detail on this assembly version. |
hg38 | chr11:534,288-534,288 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001318054.1:c.35G>A | NP_001304983.1:p.Gly12Asp |
NM_176795.4:c.35G>A | NP_789765.1:p.Gly12Asp | |
NM_001130442.2:c.35G>A | NP_001123914.1:p.Gly12Asp |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000178) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2012-06-10 | no assertion criteria provided | Costello syndrome, severe |
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Detail |
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2012-06-10 | no assertion criteria provided |
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Detail | |
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2021-10-02 | criteria provided, multiple submitters, no conflicts | Costello syndrome |
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Detail |
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2017-10-30 | criteria provided, single submitter | RASopathy |
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Detail |
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2019-05-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2015-07-14 | no assertion criteria provided | Breast neoplasm |
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Detail |
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2019-04-30 | no assertion criteria provided | Lip and oral cavity carcinoma |
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Detail |
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2020-04-30 | criteria provided, single submitter | Non-immune hydrops fetalis |
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Detail |
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2017-07-06 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
<0.001 | thymic carcinoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
<0.001 | thymoma | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
<0.001 | Thymoma, type C | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... | BeFree | 19861435 | Detail |
0.455 | Costello syndrome (disorder) | Two cases with severe lethal course of Costello syndrome associated with HRAS p.... | BeFree | 22926243 | Detail |
0.017 | Carcinogenesis | We found that TRAIL expression is consistently downregulated in HRAS(G12V)-trans... | BeFree | 21697397 | Detail |
<0.001 | Immunologic Deficiency Syndromes | Primary human and bovine adrenocortical cells were transduced with retroviruses ... | BeFree | 15342398 | Detail |
0.003 | Carcinogenesis | We found that TRAIL expression is consistently downregulated in HRAS(G12V)-trans... | BeFree | 21697397 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Costello syndrome, severe | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Nevus sebaceous | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Costello syndrome | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND RASopathy | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND not provided | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Breast neoplasm | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Lip and oral cavity carcinoma | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Non-immune hydrops fetalis | ClinVar | Detail |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... | DisGeNET | Detail |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. | DisGeNET | Detail |
We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in step... | DisGeNET | Detail |
Primary human and bovine adrenocortical cells were transduced with retroviruses encoding Ha-Ras(G12V... | DisGeNET | Detail |
We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in step... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs104894230 dbSNP
- Genome
- hg38
- Position
- chr11:534,288-534,288
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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