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Curation:

Currentness:

COL5A1 R792X

(COL5A1 Arg792Stop)

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

GeneTests

GeneTests records for the COL5A1 gene
Ehlers-Danlos Syndrome, Classic Type
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL5A1

OMIM

Ehlers-danlos syndrome, type i
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120215

Web search results (5 hits -- see all)

Mendelian Inheritance in Man Document Reader
Using cDNA and genomic clones for the COL5A1 gene as probes, Greenspan et al. (1992) ... COL5A1 to the index markers of chromosome 9 by evaluation of the ...
www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+120215
COL5A1 Haploinsufﬁciency Is a Common Molecular Mechanism ...
We have identiﬁed haploinsufﬁciency of the COL5A1 gene that encodes the pro ... COL5A1 alleles were approximately equal after the addition of cycloheximide to ...
sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf