ABCA4 c.4504T>C ;(p.C1502R)

Variant ID: 1-94495036-A-G

NM_000350.2(ABCA4):c.4504T>C;(p.C1502R)

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:

Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

The Journal Of Biological Chemistry
Quazi, Faraz F; Molday, Robert S RS
Publication Date: 2013-11-29

Variant appearance in text: ABCA4: C1502R
PubMed Link: 24097981
Variant Present in the following documents:
  • Main text
View BVdb publication page