chr17:41215905:A>G Detail (hg19) (BRCA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:41,215,905-41,215,905 |
hg38 | chr17:43,063,888-43,063,888 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007298.3:c.1826T>C | NP_009229.2:p.Val609Ala |
NM_007300.3:c.5201T>C | NP_009231.2:p.Val1734Ala | |
NM_007299.3:c.1826T>C | NP_009230.2:p.Val609Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-08-29 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
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Detail |
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2018-05-10 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
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Detail |
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2023-08-15 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2022-03-30 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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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 | |
0.420 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) AND not provided | ClinVar | Detail |
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) AND Hereditary cancer-predisposing syndrome | 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs80357132 dbSNP
- Genome
- hg19
- Position
- chr17:41,215,905-41,215,905
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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