rs80359544
From SNPedia
Merged into | rs80359543 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGTT) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(AGTT;AGTT) | 0 | common in clinvar |
(GTTA;GTTA) | 0 | common in clinvar |
Make rs80359544(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340206 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359544 |
dbSNP (classic) | rs80359544 |
ClinGen | rs80359544 |
ebi | rs80359544 |
HLI | rs80359544 |
Exac | rs80359544 |
Gnomad | rs80359544 |
Varsome | rs80359544 |
LitVar | rs80359544 |
Map | rs80359544 |
PheGenI | rs80359544 |
Biobank | rs80359544 |
1000 genomes | rs80359544 |
hgdp | rs80359544 |
ensembl | rs80359544 |
geneview | rs80359544 |
scholar | rs80359544 |
rs80359544 | |
pharmgkb | rs80359544 |
gwascentral | rs80359544 |
openSNP | rs80359544 |
23andMe | rs80359544 |
SNPshot | rs80359544 |
SNPdbe | rs80359544 |
MSV3d | rs80359544 |
GWAS Ctlg | rs80359544 |
Status | Merged into rs80359543 |
Max Magnitude | 6 |
rs80359544, also known as 6079del4, c.5851_5854delAGTT and p.Ser1951_Leu1952?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80359544(GTTA;GTTA) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000013.10:g.32914343_32914346delAGTT |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000031582.10, RCV000044773.3, RCV000131116.3, RCV000254645.1, |