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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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