ABCA4 c.371G>T ;(p.R124L)

Variant ID: 1-94574204-C-A

NM_000350.2(ABCA4):c.371G>T;(p.R124L)

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:

Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y
Publication Date: 2021-06-25

Variant appearance in text: ABCA4: Arg124Leu
PubMed Link: 33988224
Variant Present in the following documents:
  • Main text
  • bsr-41-bsr20203497.pdf
View BVdb publication page