ABCA4 c.300C>A ;(p.S100=)

Variant ID: 1-94576996-G-T

NM_000350.2(ABCA4):c.300C>A;(p.S100=)

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:

The proteomics of drusen.

Cold Spring Harbor Perspectives In Medicine
Crabb, John W JW
Publication Date: 2014-05-05

Variant appearance in text: ABCA4: S100s
PubMed Link: 24799364
Variant Present in the following documents:
  • Main text
View BVdb publication page