Details for KRT5:c.548T>C, p.Ile183Thr

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
5291353352519749
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KRT5
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000424.3
CDNA CHANGE c.548T>C
PROTEIN CHANGE p.Ile183Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.024783Disease causing
DBSNP ID rs267607661
1 combination linked to KRT5:c.548T>C, p.Ile183Thr OLI414
1 disease linked to KRT5:c.548T>C, p.Ile183Thr Epidermolysis bullosa simplex
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