ABCA4 c.4405A>G ;(p.N1469D)

Variant ID: 1-94495135-T-C

NM_000350.2(ABCA4):c.4405A>G;(p.N1469D)

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:

Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.

International Journal Of Molecular Medicine
Liu, Sanmei S; Xie, Lan L; Yue, Jun J; Ma, Tao T; Peng, Chunyan C; Qiu, Biyuan B; Yang, Zhenglin Z; Yang, Jiyun J
Publication Date: 2016-06

Variant appearance in text: ABCA4: 4405A>G; N1469D
PubMed Link: 27082927
Variant Present in the following documents:
  • Main text
  • ijmm-37-06-1528.pdf
View BVdb publication page