HR c.2173G>C ;(p.D725H)

Variant ID: 8-21979156-C-G

NM_005144.4(HR):c.2173G>C;(p.D725H)

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:

Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.

Molecular Vision
Verdina, Tommaso T; Greenstein, Vivienne C VC; Tsang, Stephen H SH; Murro, Vittoria V; Mucciolo, Dario Pasquale DP; Passerini, Ilaria I; Mastropasqua, Rodolfo R; Cavallini, Gian Maria GM; Virgili, Gianni G; Giansanti, Fabrizio F; Sodi, Andrea A
Publication Date: 2021

Variant appearance in text: HR: 2173G>C
PubMed Link: 33688152
Variant Present in the following documents:
  • mv-v27-78.pdf
View BVdb publication page