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Details for KRT5:c.1412G>A, p.Arg471His

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
52910448	52516664

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1412G>A

PROTEIN CHANGE

p.Arg471His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
7.954e-06	0.0	0.0	0.0	0.0001087	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.360442	Disease causing

DBSNP ID

1 combination linked to KRT5:c.1412G>A, p.Arg471His

1 disease linked to KRT5:c.1412G>A, p.Arg471His

Epidermolysis bullosa simplex

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