COL4A5 c.2600dup ;(p.G869Rfs*29)

Variant ID: X-107863578-A-AT

NM_033380.2(COL4A5):c.2600dup;(p.G869Rfs*29)

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:

An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism.

Annals Of Pediatric Endocrinology & Metabolism
Lee, Su-Jeong SJ; Moon, Jung-Eun JE; Lee, Gi-Min GM; Cho, Min-Hyun MH; Ko, Cheol Woo CW
Publication Date: 2020-06

Variant appearance in text: COL4A5: 2600dupT
PubMed Link: 32615694
Variant Present in the following documents:
  • Main text
  • apem-1938074-037.pdf
View BVdb publication page