rs367543052

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AGA;AGA)	0	common in clinvar

Make rs367543052(-;-)

Make rs367543052(-;AGA)

Reference

GRCh38 38.1/141

Chromosome

14

Position

23415476

Gene	MHRT, MYH7

is a	snp
is	mentioned by
dbSNP	rs367543052
dbSNP (classic)	rs367543052
ClinGen	rs367543052
ebi	rs367543052
HLI	rs367543052
Exac	rs367543052
Gnomad	rs367543052
Varsome	rs367543052
LitVar	rs367543052
Map	rs367543052
PheGenI	rs367543052
Biobank	rs367543052
1000 genomes	rs367543052
hgdp	rs367543052
ensembl	rs367543052
geneview	rs367543052
scholar	rs367543052
google	rs367543052
pharmgkb	rs367543052
gwascentral	rs367543052
openSNP	rs367543052
23andMe	rs367543052
SNPshot	rs367543052
SNPdbe	rs367543052
MSV3d	rs367543052
GWAS Ctlg	rs367543052

Max Magnitude

0

aka c.5177_5179dupAGA and also c.5177_5179delAGA; both are considered in ClinVar to be pathogenic for autosomal dominant myopathy (distal, type 1)

ClinVar
Risk	rs367543052(-;-)
Alt	rs367543052(-;-)
Reference	Rs367543052(AGA;AGA)
Significance	Pathogenic
Disease	Laing distal myopathy Congenital myopathy with fiber type disproportion Myopathy
Variation	info
Gene	MYH7 MHRT
CLNDBN	Laing distal myopathy Congenital myopathy with fiber type disproportion Myopathy, distal, 1
Reversed	1
HGVS	NC_000014.8:g.23884685_23884687delTCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015191.26, RCV000034922.1, RCV000035952.4,

[PMID 20733148] MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.