ABCA4 c.5917_5918delinsTA ;(p.V1973*)

Variant ID: 1-94473277-AC-TA

NM_000350.2(ABCA4):c.5917_5918delinsTA;(p.V1973*)

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:

Association between genotype and phenotype in families with mutations in the ABCA4 gene.

Molecular Vision
Kjellström, Ulrika U
Publication Date: 2014

Variant appearance in text: STGD: V1973X
PubMed Link: 24453473
Variant Present in the following documents:
  • Main text
  • mv-v20-89.pdf
View BVdb publication page