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ABCA4 c.2540C>T ;(p.A847V)
Variant ID: 1-94520714-G-A
NM_000350.2(
ABCA4
):c.2540C>T;(p.A847V)
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 in 168 Korean patients with inherited retinal degeneration.
Bmc Medical Genomics
Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG
Publication Date: 2021-03-10
Variant appearance in text: ABCA4: A847V
PubMed Link:
33691693
Variant Present in the following documents:
12920_2021_874_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page