Details for CAPN3:c.1696G>A, p.Glu566Lys

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4269515142402953
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CAPN3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000070.2
CDNA CHANGE c.1696G>A
PROTEIN CHANGE p.Glu566Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.762e-050.00.00.00.00.0002310.00010560.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging4.28906Disease causing
DBSNP ID rs747819910
1 combination linked to CAPN3:c.1696G>A, p.Glu566Lys OLI569
1 disease linked to CAPN3:c.1696G>A, p.Glu566Lys Limb-girdle muscular dystrophy
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