USH2A c.8502A>T ;(p.E2834D)

Variant ID: 1-216052162-T-A

NM_206933.2(USH2A):c.8502A>T;(p.E2834D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.

Bioscience Reports
Dan, Handong H; Li, Tuo T; Lei, Xinlan X; Huang, Xin X; Xing, Yiqiao Y; Shen, Yin Y
Publication Date: 2020-05-29

Variant appearance in text: USH2A: 8502A>T; Glu2834Asp
PubMed Link: 32364220
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20200067.pdf
View BVdb publication page