COL7A1 P2847Shift

(COL7A1 2847delPinsShift)

This frameshift mutation is predicted to cause dystrophic epidermolysis bullosa in a recessive manner. Although there are no known reports of this variant, other disruptive variants in this gene cause this disease. Notably, this variant is nearer to the end than most reports (codon 2,847 out of 2,944 total), this may reduce the severity of its impact on protein function.

Variant evidence
Computational	3	Frameshift predicted to be extremely disruptive.
		Frameshift predicted to be extremely disruptive.
Functional	-

Case/Control		No reports for this particular variant.
		No reports for this particular variant.
Familial	-


Clinical importance
Severity	5

Treatability	1

Penetrance	5

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

recessive

Allele frequency

None available.

Publications

Genomes

Other external references

GeneTests

GeneTests records for the COL7A1 gene
Dystrophic Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa, Autosomal Recessive, Hallopeau
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL7A1

Other in silico analyses

NBLOSUM100 score = 4
GET-Evidence autoscore = 4

Edit history

Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Sep 28 2011 Madeleine Ball edited variant summary view
Sep 28 2011 Madeleine Ball edited variant summary view
Sep 28 2011 Madeleine Ball edited variant summary view
Sep 27 2011 Madeleine Ball added variant view

COL7A1 P2847Shift - GET-Evidence