Details for CAPN3:c.1663G>A, p.Val555Ile

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4269511842402920
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CAPN3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000070.2
CDNA CHANGE c.1663G>A
PROTEIN CHANGE p.Val555Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00011530.0014770.00.00.00.03.518e-050.00016290.0

ESP
AAEA
0.002270.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.99496Polymorphism
DBSNP ID rs138172448
1 combination linked to CAPN3:c.1663G>A, p.Val555Ile OLI415
1 disease linked to CAPN3:c.1663G>A, p.Val555Ile Limb-girdle muscular dystrophy
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