ABCA4 c.6080T>C ;(p.L2027P)

Variant ID: 1-94471064-A-G

NM_000350.2(ABCA4):c.6080T>C;(p.L2027P)

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:

Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene.

Eye (London, England)
Gemenetzi, M M; Lotery, A J AJ
Publication Date: 2013-11

Variant appearance in text: ABCA4: Leu2027Pro
PubMed Link: 23949494
Variant Present in the following documents:
  • Main text
View BVdb publication page