Details for AHI1:c.2488C>T, p.Arg830Trp

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
135751024135429886
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE AHI1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001134830.1
CDNA CHANGE c.2488C>T
PROTEIN CHANGE p.Arg830Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01140.00230.01440.0010.03680.0061

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.020140.0059880.017670.036010.00.023980.026520.025660.0107

ESP
AAEA
0.0060810.0263
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.038114Polymorphism
DBSNP ID rs13312995
1 combination linked to AHI1:c.2488C>T, p.Arg830Trp OLI832
1 disease linked to AHI1:c.2488C>T, p.Arg830Trp Acrocallosal syndrome
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