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Details for EXPH5:c.5422C>T, p.Arg1808Ter

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
108380812	108510085

VARIANT EFFECT

nonsense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.5422C>T

PROTEIN CHANGE

p.Arg1808Ter

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
5.622e-05	0.0	2.947e-05	0.0	0.0001096	4.648e-05	7.073e-05	0.0	6.659e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	4.468875	Disease causing

DBSNP ID

1 combination linked to EXPH5:c.5422C>T, p.Arg1808Ter

2 diseases linked to EXPH5:c.5422C>T, p.Arg1808Ter

Epidermolysis bullosa simplex; Junctional epidermolysis bullosa

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