COL4A5 c.973_974delinsCA ;(p.G325Q)

Variant ID: X-107826150-GG-CA

NM_033380.2(COL4A5):c.973_974delinsCA;(p.G325Q)

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:

Molecular testing for adult type Alport syndrome.

Bmc Nephrology
Pont-Kingdon, Genevieve G; Sumner, Kelli K; Gedge, Friederike F; Miller, Chris C; Denison, Joyce J; Gregory, Martin M; Lyon, Elaine E
Publication Date: 2009-11-17

Variant appearance in text: COL4A5: gly325gln
PubMed Link: 19919694
Variant Present in the following documents:
  • Main text
  • 1471-2369-10-38.pdf
View BVdb publication page