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rs80358250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Nemaline Myopathy 7
(A;G) 1 carrier for Nemaline Myopathy 7
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome14
Position34713462
GeneCFL2
is asnp
is mentioned by
dbSNPrs80358250
ebirs80358250
HLIrs80358250
Exacrs80358250
Varsomers80358250
Maprs80358250
PheGenIrs80358250
hapmaprs80358250
1000 genomesrs80358250
hgdprs80358250
ensemblrs80358250
gopubmedrs80358250
geneviewrs80358250
scholarrs80358250
googlers80358250
pharmgkbrs80358250
gwascentralrs80358250
openSNPrs80358250
23andMers80358250
23andMe allrs80358250
SNP Nexus

SNPshotrs80358250
SNPdbers80358250
MSV3drs80358250
GWAS Ctlgrs80358250
Max Magnitude4
OMIM601443
Desc
Variant0001
Relatedalso
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
CLNACC RCV000008638.3,


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