COL4A5 c.287G>C ;(p.G96A)

Variant ID: X-107811869-G-C

NM_033380.2(COL4A5):c.287G>C;(p.G96A)

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:

Temporal macular thinning associated with X-linked Alport syndrome.

Jama Ophthalmology
Ahmed, Faisal F; Kamae, Kandon K KK; Jones, Denise J DJ; Deangelis, Margaret M MM; Hageman, Gregory S GS; Gregory, Martin C MC; Bernstein, Paul S PS
Publication Date: 2013-06

Variant appearance in text: COL4A5: G96A
PubMed Link: 23572034
Variant Present in the following documents:
  • Main text
View BVdb publication page