COL3A1 c.1257C>A ;(p.A419=)

Variant ID: 2-189859022-C-A

NM_000090.3(COL3A1):c.1257C>A;(p.A419=)

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:

Natural variation in four human collagen genes across an ethnically diverse population.

Genomics
Chan, Ting-Fung TF; Poon, Annie A; Basu, Analabha A; Addleman, Nick R NR; Chen, Justin J; Phong, Angie A; Byers, Peter H PH; Klein, Teri E TE; Kwok, Pui-Yan PY
Publication Date: 2008-04

Variant appearance in text: COL3A1: A419A
PubMed Link: 18272325
Variant Present in the following documents:
  • Main text
View BVdb publication page