chr17:41209139:A>G Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,209,139-41,209,139 |
hg38 | chr17:43,057,122-43,057,122 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007298.3:c.1895T>C | NP_009229.2:p.Val632Ala |
NM_007297.3:c.5066T>C | NP_009228.2:p.Val1689Ala | |
NM_007299.3:c.1895T>C | NP_009230.2:p.Val632Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2019-06-25 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2024-02-06 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-10-20 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-21 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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2013-04-01 | no assertion criteria provided | Fanconi anemia, complementation group S |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Breast-ovarian cancer, familial, susceptibility to, 1 | NA | CLINVAR | Detail | |
0.196 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
0.126 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.420 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail | |
0.032 | Epithelial ovarian cancer | This study describes an individual who was diagnosed with ovarian carcinoma at a... | BeFree | 23269703 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) AND Fanconi anemia, complementation group S | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to h... | 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
- rs45553935 dbSNP
- Genome
- hg19
- Position
- chr17:41,209,139-41,209,139
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser