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Details for COL17A1:c.3781C>T, p.Arg1226Ter

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
105794469	104034711

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3781C>T

PROTEIN CHANGE

p.Arg1226Ter

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
2.07e-05	0.0	0.0	0.0	0.0	0.0001901	9.227e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.045194	Disease causing

DBSNP ID

1 combination linked to COL17A1:c.3781C>T, p.Arg1226Ter

1 disease linked to COL17A1:c.3781C>T, p.Arg1226Ter

Junctional epidermolysis bullosa

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