ABCA4 c.388C>A ;(p.H130N)

Variant ID: 1-94574187-G-T

NM_000350.2(ABCA4):c.388C>A;(p.H130N)

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:

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

International Journal Of Molecular Sciences
Maggi, Jordi J; Koller, Samuel S; Bähr, Luzy L; Feil, Silke S; Kivrak Pfiffner, Fatma F; Hanson, James V M JVM; Maspoli, Alessandro A; Gerth-Kahlert, Christina C; Berger, Wolfgang W
Publication Date: 2021-02-03

Variant appearance in text: ABCA4: 388C>A
PubMed Link: 33546218
Variant Present in the following documents:
  • ijms-22-01508.pdf
View BVdb publication page