chr17:29665757:C>A Detail (hg19) (NF1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:29,665,757-29,665,757 |
hg38 | chr17:31,338,739-31,338,739 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000267.3:c.6792C>A | NP_000258.1:p.Tyr2264Ter |
NM_001042492.2:c.6855C>A | NP_001035957.1:p.Tyr2285Ter | |
Ensemble | ENST00000356175.7:c.6792C>A | ENST00000356175.7:p.Tyr2264Ter |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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2020/04/20 | bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2020/04/20 | bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2015-05-21 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-03-15 | criteria provided, multiple submitters, no conflicts | Neurofibromatosis, type 1 |
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Detail |
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2023-03-14 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-10-31 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1 |
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Detail |
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2018-10-31 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1 |
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Detail |
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2018-10-31 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1 |
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Detail |
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2018-10-31 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1 |
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Detail |
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2018-10-31 | criteria provided, single submitter | Café-au-lait macules with pulmonary stenosis,neurofibromatosis-Noonan syndrome,Neurofibromatosis, familial spinal,juvenile myelomonocytic leukemia,Neurofibromatosis, type 1 |
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Detail |
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2018-09-04 | no assertion criteria provided | Ewing sarcoma,Neurofibromatosis, type 1 |
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Detail |
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2018-09-04 | no assertion criteria provided | Ewing sarcoma,Neurofibromatosis, type 1 |
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Detail |
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2021-07-01 | no assertion criteria provided | Gastric cancer |
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Detail |
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2023-08-29 | criteria provided, single submitter | juvenile myelomonocytic leukemia |
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Detail |
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2023-07-27 | criteria provided, single submitter | NF1-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.670 | neurofibromatosis 1 | NA | CLINVAR | Detail | |
0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND Neurofibromatosis, type 1 | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND not provided | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND multiple conditions | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND Gastric cancer | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) AND NF1-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | 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
- rs772295894 dbSNP
- Genome
- hg19
- Position
- chr17:29,665,757-29,665,757
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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