rs180177100

Orientation

minus

Stabilized

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

23635306

Gene

PALB2

is a	snp
is	mentioned by
dbSNP	rs180177100
dbSNP (classic)	rs180177100
ClinGen	rs180177100
ebi	rs180177100
HLI	rs180177100
Exac	rs180177100
Gnomad	rs180177100
Varsome	rs180177100
LitVar	rs180177100
Map	rs180177100
PheGenI	rs180177100
Biobank	rs180177100
1000 genomes	rs180177100
hgdp	rs180177100
ensembl	rs180177100
geneview	rs180177100
scholar	rs180177100
google	rs180177100
pharmgkb	rs180177100
gwascentral	rs180177100
openSNP	rs180177100
23andMe	rs180177100
SNPshot	rs180177100
SNPdbe	rs180177100
MSV3d	rs180177100
GWAS Ctlg	rs180177100

Max Magnitude

7

ClinVar
Risk	Rs180177100(T;T)
Alt	Rs180177100(T;T)
Reference	Rs180177100(C;C)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation	info
Gene	PALB2
CLNDBN	Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed	1
HGVS	NC_000016.9:g.23646627G>A
CLNSRC	Ambry Genetics ClinVar GeneDx
CLNACC	RCV000116064.6, RCV000123331.5, RCV000254674.2,

[PMID 21165770] PALB2 mutations in German and Russian patients with bilateral breast cancer.

[PMID 21285249] Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.