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rs137854521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
Make rs137854521(-;A)
Make rs137854521(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position22221107
GeneANO5
is asnp
is mentioned by
dbSNPrs137854521
ebirs137854521
HLIrs137854521
Exacrs137854521
Varsomers137854521
Maprs137854521
PheGenIrs137854521
hapmaprs137854521
1000 genomesrs137854521
hgdprs137854521
ensemblrs137854521
gopubmedrs137854521
geneviewrs137854521
scholarrs137854521
googlers137854521
pharmgkbrs137854521
gwascentralrs137854521
openSNPrs137854521
23andMers137854521
23andMe allrs137854521
SNP Nexus

SNPshotrs137854521
SNPdbers137854521
MSV3drs137854521
GWAS Ctlgrs137854521
Max Magnitude0
OMIM608662
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137854521(A;A)
Alt rs137854521(A;A)
Reference rs137854521(;)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy not provided
Variation info
Gene ANO5
CLNDBN Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L not provided
Reversed 0
HGVS NC_000011.9:g.22242653dupA
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002247.5, RCV000002248.6, RCV000082844.4, RCV000200720.1,


[PMID 20096397OA-icon.png] Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

[PMID 21186264OA-icon.png] A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.