COL3A1 c.2996G>A ;(p.G999D)

Variant ID: 2-189870140-G-A

NM_000090.3(COL3A1):c.2996G>A;(p.G999D)

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:

Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins.

Respiratory Medicine Case Reports
Ruggeri, Paolo P; Calcaterra, Salvatore S; Girbino, Giuseppe G
Publication Date: 2015

Variant appearance in text: COL3A1: Gly999Asp
PubMed Link: 26029576
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page