Details for KRT14:c.1163G>A, p.Arg388His

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
3973959841583346
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KRT14
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000526.4
CDNA CHANGE c.1163G>A
PROTEIN CHANGE p.Arg388His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00.00.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00015120.00.00.002580.00010870.07.918e-050.00016320.0

ESP
AAEA
0.00.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.642933Disease causing
DBSNP ID rs58645163
1 combination linked to KRT14:c.1163G>A, p.Arg388His OLI414
1 disease linked to KRT14:c.1163G>A, p.Arg388His Epidermolysis bullosa simplex
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