rs764313717

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	5	McArdle disease, mild form (also known as glycogen storage disease type V)
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

11

Position

64758375

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs764313717
dbSNP (classic)	rs764313717
ClinGen	rs764313717
ebi	rs764313717
HLI	rs764313717
Exac	rs764313717
Gnomad	rs764313717
Varsome	rs764313717
LitVar	rs764313717
Map	rs764313717
PheGenI	rs764313717
Biobank	rs764313717
1000 genomes	rs764313717
hgdp	rs764313717
ensembl	rs764313717
geneview	rs764313717
scholar	rs764313717
google	rs764313717
pharmgkb	rs764313717
gwascentral	rs764313717
openSNP	rs764313717
23andMe	rs764313717
SNPshot	rs764313717
SNPdbe	rs764313717
MSV3d	rs764313717
GWAS Ctlg	rs764313717

Max Magnitude

5

PYGM gene, c.425_528del; this is a splice site mutation resulting in an abnormally spliced protein (lacking exon 4)

ClinVar
Risk	Rs764313717(C;C)
Alt	Rs764313717(C;C)
Reference	Rs764313717(T;T)
Significance	Pathogenic
Disease	McArdle disease Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	McArdle disease, mild Glycogen storage disease, type V
Reversed	0
HGVS	NC_000011.9:g.64525847T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002406.4, RCV000454242.1,