COL4A5 c.502G>A ;(p.G168R)

Variant ID: X-107816840-G-A

NM_033380.2(COL4A5):c.502G>A;(p.G168R)

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:

Voice alterations in patients with Morquio A syndrome.

Journal Of Applied Genetics
Szklanny, Krzysztof K; Gubrynowicz, Ryszard R; Tylki-Szymańska, Anna A
Publication Date: 2018-02

Variant appearance in text: ATS: G168R
PubMed Link: 29275451
Variant Present in the following documents:
  • Main text
View BVdb publication page