rs5030849

Mild Phenylketonuria

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	PHENYLKETONURIA, MILD
(A;G)	3	Carrier of a phenylketonuria mutation
(C;G)	3	Carrier of a phenylketonuria mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

12

Position

102852875

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030849
dbSNP (classic)	rs5030849
ClinGen	rs5030849
ebi	rs5030849
HLI	rs5030849
Exac	rs5030849
Gnomad	rs5030849
Varsome	rs5030849
LitVar	rs5030849
Map	rs5030849
PheGenI	rs5030849
Biobank	rs5030849
1000 genomes	rs5030849
hgdp	rs5030849
ensembl	rs5030849
geneview	rs5030849
scholar	rs5030849
google	rs5030849
pharmgkb	rs5030849
gwascentral	rs5030849
openSNP	rs5030849
23andMe	rs5030849
SNPshot	rs5030849
SNPdbe	rs5030849
MSV3d	rs5030849
GWAS Ctlg	rs5030849

Max Magnitude

6

aka c.782G>C (p.Arg261Pro or R261P) and also c.782G>A (p.Arg261Gln or R261Q)

?	(A;A) (A;G) (G;G)	28

OMIM	261600
Desc	PHENYLKETONURIA, MILD
Variant	0006
Related	also

OMIM	612349
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs5030849(A;A) rs5030849(C;C)
Alt	Rs5030849(A;A) rs5030849(C;C)
Reference	Rs5030849(G;G)
Significance	Other
Disease	not provided Phenylketonuria
Variation	info
Gene	PAH
CLNDBN	not provided Phenylketonuria
Reversed	1
HGVS	NC_000012.11:g.103246653C>G; NC_000012.11:g.103246653C>T
CLNSRC	UniProtKB (protein) HGMD OMIM Allelic Variant
CLNACC	RCV000089091.1, RCV000410877.1, RCV000000612.8, RCV000078530.6,