This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for COL17A1:c.2669T>G, p.Leu855Ter

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
105801284	104041526

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.2669T>G

PROTEIN CHANGE

p.Leu855Ter

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
None	None	8.099437	Disease causing

DBSNP ID

1 combination linked to COL17A1:c.2669T>G, p.Leu855Ter

1 disease linked to COL17A1:c.2669T>G, p.Leu855Ter

Junctional epidermolysis bullosa

Found any issues with the data on this page? Report this entry.