Details for ANO5:c.191dup, p.Asn64LysfsTer15

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
2224264722221101
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE ANO5
REFERENCE ALLELE A
ALTERNATE ALLELE AA
TRANSCRIPT NM_213599.3
CDNA CHANGE c.191dup
PROTEIN CHANGE p.Asn64LysfsTer15
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.766971Disease causing
DBSNP ID rs13785452
1 combination linked to ANO5:c.191dup, p.Asn64LysfsTer15 OLI016
1 disease linked to ANO5:c.191dup, p.Asn64LysfsTer15 Limb-girdle muscular dystrophy
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