rs80358250

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	4	Nemaline Myopathy 7
(A;G)	1	carrier for Nemaline Myopathy 7
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

14

Position

34713462

Gene

CFL2

is a	snp
is	mentioned by
dbSNP	rs80358250
dbSNP (classic)	rs80358250
ClinGen	rs80358250
ebi	rs80358250
HLI	rs80358250
Exac	rs80358250
Gnomad	rs80358250
Varsome	rs80358250
LitVar	rs80358250
Map	rs80358250
PheGenI	rs80358250
Biobank	rs80358250
1000 genomes	rs80358250
hgdp	rs80358250
ensembl	rs80358250
geneview	rs80358250
scholar	rs80358250
google	rs80358250
pharmgkb	rs80358250
gwascentral	rs80358250
openSNP	rs80358250
23andMe	rs80358250
SNPshot	rs80358250
SNPdbe	rs80358250
MSV3d	rs80358250
GWAS Ctlg	rs80358250

Max Magnitude

4

OMIM	601443
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs80358250(A;A)
Alt	Rs80358250(A;A)
Reference	Rs80358250(G;G)
Significance	Pathogenic
Disease	Nemaline myopathy 7
Variation	info
Gene	CFL2
CLNDBN	Nemaline myopathy 7
Reversed	1
HGVS	NC_000014.8:g.35182668C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008638.3,

[PMID 17160903] Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.