Details for ANO5:c.2272C>T, p.Arg758Cys

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
2229615422274608
VARIANT EFFECT silent
ANNOTATION FLAG automatically_attributed
GENE ANO5
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_213599.2
CDNA CHANGE c.2272C>T
PROTEIN CHANGE p.Arg758Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.397e-050.00030782.898e-050.00.00.00.00.00.0

ESP
AAEA
0.00068090.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.113393Polymorphism
DBSNP ID rs142231956
1 combination linked to ANO5:c.2272C>T, p.Arg758Cys OLI017
1 disease linked to ANO5:c.2272C>T, p.Arg758Cys Limb-girdle muscular dystrophy
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