ABCA4 c.249_250insT ;(p.S84*)

Variant ID: 1-94577046-T-TA

NM_000350.2(ABCA4):c.249_250insT;(p.S84*)

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:

Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.

Ophthalmology
Duncker, Tobias T; Tsang, Stephen H SH; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Delori, François C FC; Sparrow, Janet R JR
Publication Date: 2015-02

Variant appearance in text: N/A
PubMed Link: 25283059
Variant Present in the following documents:
View BVdb publication page