USH2A c.14004del ;(p.L4668Ffs*10)

Variant ID: 1-215844443-AC-A

NM_206933.2(USH2A):c.14004del;(p.L4668Ffs*10)

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:

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

International Journal Of Molecular Sciences
Inaba, Akira A; Maeda, Akiko A; Yoshida, Akiko A; Kawai, Kanako K; Hirami, Yasuhiko Y; Kurimoto, Yasuo Y; Kosugi, Shinji S; Takahashi, Masayo M
Publication Date: 2020-10-22

Variant appearance in text: USH2A: 14004delG; Leu4668Phefs*10
PubMed Link: 33105608
Variant Present in the following documents:
  • Main text
  • ijms-21-07817.pdf
View BVdb publication page