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.202delA, p.Thr68LeufsTer106

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
105837179	104077421

VARIANT EFFECT

splicing

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

CT

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.202delA

PROTEIN CHANGE

p.Thr68LeufsTer106

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	4.730174	Disease causing

DBSNP ID

1 combination linked to COL17A1:c.202delA, p.Thr68LeufsTer106

2 diseases linked to COL17A1:c.202delA, p.Thr68LeufsTer106

Epidermolysis bullosa simplex; Junctional epidermolysis bullosa

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