ABCA4 c.6191C>T ;(p.A2064V)

Variant ID: 1-94467505-G-A

NM_000350.2(ABCA4):c.6191C>T;(p.A2064V)

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:

Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.

European Journal Of Human Genetics : Ejhg
Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 6191C>T; A2064V
PubMed Link: 28327576
Variant Present in the following documents:
  • Main text
View BVdb publication page