COL3A1 c.1502G>C ;(p.G501A)

Variant ID: 2-189859818-G-C

NM_000090.3(COL3A1):c.1502G>C;(p.G501A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Müller, Gerd A GA; Hansen, Uwe U; Xu, Zhi Z; Griswold, Benjamin B; Talan, Mark I MI; McDonnell, Nazli B NB; Briest, Wilfried W
Publication Date: 2012-02

Variant appearance in text: COL3A1: 1502G>C; G501A
PubMed Link: 22038052
Variant Present in the following documents:
  • Main text
View BVdb publication page