USH2A c.9545A>G ;(p.H3182R)

Variant ID: 1-215990364-T-C

NM_206933.2(USH2A):c.9545A>G;(p.H3182R)

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:

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.

International Journal Of Molecular Sciences
Kortüm, Friederike F; Kieninger, Sinja S; Mazzola, Pascale P; Kohl, Susanne S; Wissinger, Bernd B; Prokisch, Holger H; Stingl, Katarina K; Weisschuh, Nicole N
Publication Date: 2021-01-16

Variant appearance in text: USH2A: 9545A>G; H3182R
PubMed Link: 33467000
Variant Present in the following documents:
  • Main text
  • ijms-22-00850.pdf
View BVdb publication page