rs80359352
From SNPedia
Merged into | rs80359351 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;ACAA) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AAAC;AAAC) | 0 | common in clinvar |
(ACAA;ACAA) | 0 | common in clinvar |
Make rs80359352(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32337163 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359352 |
dbSNP (classic) | rs80359352 |
ClinGen | rs80359352 |
ebi | rs80359352 |
HLI | rs80359352 |
Exac | rs80359352 |
Gnomad | rs80359352 |
Varsome | rs80359352 |
LitVar | rs80359352 |
Map | rs80359352 |
PheGenI | rs80359352 |
Biobank | rs80359352 |
1000 genomes | rs80359352 |
hgdp | rs80359352 |
ensembl | rs80359352 |
geneview | rs80359352 |
scholar | rs80359352 |
rs80359352 | |
pharmgkb | rs80359352 |
gwascentral | rs80359352 |
openSNP | rs80359352 |
23andMe | rs80359352 |
SNPshot | rs80359352 |
SNPdbe | rs80359352 |
MSV3d | rs80359352 |
GWAS Ctlg | rs80359352 |
Status | Merged into rs80359351 |
Max Magnitude | 6 |
rs80359352, also known as 3036del4, c.2808_2811delACAA and p.Ala938ProfsX21, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80359352(AAAC;AAAC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer not specified Breast cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer, familial 1 not specified Breast cancer |
Reversed | 0 |
HGVS | NC_000013.10:g.32911300_32911303delACAA |
CLNSRC | Breast Cancer Information Core (BRCA2) Inc. OMIM Allelic Variant |
CLNACC | RCV000009907.8, RCV000044064.8, RCV000131102.4, RCV000160273.3, RCV000210161.1, RCV000238794.1, RCV000240755.1, |