rs62642926

minus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;G)	3	Carrier of a phenylketonuria mutation
(G;G)	6	Phenylketonuria

Reference

GRCh38 38.1/142

Chromosome

12

Position

102912842

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs62642926
dbSNP (classic)	rs62642926
ClinGen	rs62642926
ebi	rs62642926
HLI	rs62642926
Exac	rs62642926
Gnomad	rs62642926
Varsome	rs62642926
LitVar	rs62642926
Map	rs62642926
PheGenI	rs62642926
Biobank	rs62642926
1000 genomes	rs62642926
hgdp	rs62642926
ensembl	rs62642926
geneview	rs62642926
scholar	rs62642926
google	rs62642926
pharmgkb	rs62642926
gwascentral	rs62642926
openSNP	rs62642926
23andMe	rs62642926
SNPshot	rs62642926
SNPdbe	rs62642926
MSV3d	rs62642926
GWAS Ctlg	rs62642926

Max Magnitude

6

OMIM	612349
Desc
Variant	0031
Related	also

rs62642926, also known as c.117C>G, p.Phe39Leu and F39L, represents a mutation in the PAH gene on chromosome 12.

The quite rare rs62642926(G) allele (as represented on the minus strand in GRCh37 and GRCh38) leads to phenylketonuria when inherited in two copies or as a compound heterozygote.

See also OMIM 612349.0031

This SNP is renamed as i4000470 by 23andMe.

FTDNA & MyHeritage name: VG12S8223

ClinVar
Risk	Rs62642926(G;G)
Alt	Rs62642926(G;G)
Reference	Rs62642926(C;C)
Significance	Pathogenic
Disease	Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103306620G>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000636.5, RCV000078504.6,