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Details for EXPH5:c.1153C>T, p.Gln385Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
108385081	108514354

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.1153C>T

PROTEIN CHANGE

p.Gln385Ter

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
3.989e-06	0.0	0.0	0.0	5.437e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.659913	Disease causing

DBSNP ID

1 combination linked to EXPH5:c.1153C>T, p.Gln385Ter

1 disease linked to EXPH5:c.1153C>T, p.Gln385Ter

Epidermolysis bullosa simplex

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