USH2A c.7075_7076del ;(p.L2359Nfs*17)

Variant ID: 1-216138703-TAA-T

NM_206933.2(USH2A):c.7075_7076del;(p.L2359Nfs*17)

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:

Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine
Sun, Yan Y; Li, Wei W; Li, Jian-Kang JK; Wang, Zhuo-Shi ZS; Bai, Jin-Yue JY; Xu, Ling L; Xing, Bo B; Yang, Wen W; Wang, Zi-Wei ZW; Wang, Lu-Sheng LS; He, Wei W; Chen, Fang F
Publication Date: 2020-04

Variant appearance in text: USH2A: 7075_7076delTT; Leu2359Asnfs*17
PubMed Link: 32100970
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1184.pdf
View BVdb publication page