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Details for ENPP1:c.971G>A, p.Gly324Glu

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
132182790	131861650

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.971G>A

PROTEIN CHANGE

p.Gly324Glu

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.923202	Disease causing

DBSNP ID

1 combination linked to ENPP1:c.971G>A, p.Gly324Glu

1 disease linked to ENPP1:c.971G>A, p.Gly324Glu

Epidermolysis bullosa simplex

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