Details for CAPN1:c.1037C>T, p.Thr346Ile

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6495608965188618
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CAPN1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001198868.1
CDNA CHANGE c.1037C>T
PROTEIN CHANGE p.Thr346Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00033730.00.00.00.00.0033897.088e-050.00049640.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.545987Polymorphism
DBSNP ID rs192790363
1 combination linked to CAPN1:c.1037C>T, p.Thr346Ile OLI335
1 disease linked to CAPN1:c.1037C>T, p.Thr346Ile Amyotrophic lateral sclerosis
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