COL4A5 c.4003C>A ;(p.P1335T)

Variant ID: X-107923969-C-A

NM_033380.2(COL4A5):c.4003C>A;(p.P1335T)

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:

High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India.

Kidney International Reports
Sinha, Rajiv R; Ray Chaudhury, Arpita A; Sarkar, Subhankar S; Banerjee, Sushmita S; Pulai, Smartya S; Dasgupta, Saugat S; Muorah, Mordi M; Datta, Dipanjana D
Publication Date: 2022-04

Variant appearance in text: COL4A5: 4003C>A; Pro1335Thr
PubMed Link: 35497790
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page