Details for KRT14:c.815T>C, p.Met272Thr

CHROMOSOME 17
GENOMIC COORDINATES
hg19hg38
3974012441583872
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KRT14
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_000526.4
CDNA CHANGE c.815T>C
PROTEIN CHANGE p.Met272Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.518088Disease causing
DBSNP ID rs61371557
1 combination linked to KRT14:c.815T>C, p.Met272Thr OLI240
1 disease linked to KRT14:c.815T>C, p.Met272Thr Epidermolysis bullosa simplex
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