rs180177091

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	PALB2-related cancer risk
(T;T)	7	Fanconi anemia, complementation group N

Reference

GRCh38 38.1/141

Chromosome

16

Position

23635795

Gene

PALB2

is a	snp
is	mentioned by
dbSNP	rs180177091
dbSNP (classic)	rs180177091
ClinGen	rs180177091
ebi	rs180177091
HLI	rs180177091
Exac	rs180177091
Gnomad	rs180177091
Varsome	rs180177091
LitVar	rs180177091
Map	rs180177091
PheGenI	rs180177091
Biobank	rs180177091
1000 genomes	rs180177091
hgdp	rs180177091
ensembl	rs180177091
geneview	rs180177091
scholar	rs180177091
google	rs180177091
pharmgkb	rs180177091
gwascentral	rs180177091
openSNP	rs180177091
23andMe	rs180177091
SNPshot	rs180177091
SNPdbe	rs180177091
MSV3d	rs180177091
GWAS Ctlg	rs180177091

Max Magnitude

7

aka c.751C>T (p.Gln251Ter or Q251X)

This mutation has been reported repeatedly in Chinese women in particular, suggesting a possible founder effect (mutation).[PMID 30720863]

ClinVar
Risk	Rs180177091(T;T)
Alt	Rs180177091(T;T)
Reference	Rs180177091(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	PALB2
CLNDBN	Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000016.9:g.23647116G>A
CLNSRC	PALB2 database
CLNACC	RCV000114657.1, RCV000210097.2, RCV000413603.1,

[PMID 18446436] The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives.