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.




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