rs72552255

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Wilson disease mutation

Make rs72552255(T;T)

Reference

GRCh38 38.1/142

Chromosome

13

Position

51946414

Gene

ATP7B

is a	snp
is	mentioned by
dbSNP	rs72552255
dbSNP (classic)	rs72552255
ClinGen	rs72552255
ebi	rs72552255
HLI	rs72552255
Exac	rs72552255
Gnomad	rs72552255
Varsome	rs72552255
LitVar	rs72552255
Map	rs72552255
PheGenI	rs72552255
Biobank	rs72552255
1000 genomes	rs72552255
hgdp	rs72552255
ensembl	rs72552255
geneview	rs72552255
scholar	rs72552255
google	rs72552255
pharmgkb	rs72552255
gwascentral	rs72552255
openSNP	rs72552255
23andMe	rs72552255
SNPshot	rs72552255
SNPdbe	rs72552255
MSV3d	rs72552255
GWAS Ctlg	rs72552255

Max Magnitude

3

ClinVar
Risk	rs72552255(T;T)
Alt	rs72552255(T;T)
Reference	Rs72552255(C;C)
Significance	Pathogenic
Disease	Wilson disease not provided
Variation	info
Gene	ATP7B
CLNDBN	Wilson disease not provided
Reversed	1
HGVS	NC_000013.10:g.52520550G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000029359.3, RCV000078046.3,

[PMID 98378] Differences in pituitary and testicular function between diabetic patients on insulin and oral anti-diabetic agents.

[PMID 11175281] Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples.

[PMID 16283883] Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

[PMID 17461475 ] Diagnostic criteria for acute liver failure due to Wilson disease.

[PMID 17717039 ] Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

[PMID 18483695] Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.