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rs2291569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs2291569(A;A)
Make rs2291569(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128848680
GeneFLNC
is asnp
is mentioned by
dbSNPrs2291569
ebirs2291569
HLIrs2291569
Exacrs2291569
Varsomers2291569
Maprs2291569
PheGenIrs2291569
hapmaprs2291569
1000 genomesrs2291569
hgdprs2291569
ensemblrs2291569
gopubmedrs2291569
geneviewrs2291569
scholarrs2291569
googlers2291569
pharmgkbrs2291569
gwascentralrs2291569
openSNPrs2291569
23andMers2291569
23andMe allrs2291569
SNP Nexus

SNPshotrs2291569
SNPdbers2291569
MSV3drs2291569
GWAS Ctlgrs2291569
GMAF0.07025
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene FLNC
allele A
frequency
sift TOLERATED
HuRef 1103652700621
Disease Association Defects in FLNC are the cause of autosomal dominant filaminopathy (MIM:609524, 601419). Myofibrillar myopathy (MFM) is a neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. Autosomal dominant filaminopathy is a form of MFM characterized by morphological features of MFM and clinical features of a limb-girdle myopathy. A heterozygous nonsense mutation which segregates with the disease, has been identified in the FLNC gene.



GET Evidence
FLNC-R1567Q
aa_change Arg1567Gln
aa_change_short R1567Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0657054
summary



ClinVar
Risk rs2291569(A,C;A,C)
Alt rs2291569(A,C;A,C)
Reference rs2291569(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene FLNC
CLNDBN not specified
Reversed 0
HGVS NC_000007.13:g.128488734G>A
CLNSRC ClinVar
CLNACC RCV000117076.2,