Bibliome.ai browser hg19
Search
About
Stats
FAQ
ABCA4 c.2572G>A ;(p.D858N)
Variant ID: 1-94520682-C-T
NM_000350.2(
ABCA4
):c.2572G>A;(p.D858N)
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:
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Human Genetics
Bahena, Paulina P; Daftarian, Narsis N; Maroofian, Reza R; Linares, Paola P; Villalobos, Daniel D; Mirrahimi, Mehraban M; Rad, Aboulfazl A; Doll, Julia J; Hofrichter, Michaela A H MAH; Koparir, Asuman A; Röder, Tabea T; Han, Seungbin S; Sabbaghi, Hamideh H; Ahmadieh, Hamid H; Behboudi, Hassan H; Villanueva-Mendoza, Cristina C; Cortés-Gonzalez, Vianney V; Zamora-Ortiz, Rocio R; Kohl, Susanne S; Kuehlewein, Laura L; Darvish, Hossein H; Alehabib, Elham E; Arenas-Sordo, Maria de la Luz ML; Suri, Fatemeh F; Vona, Barbara B; Haaf, Thomas T
Publication Date: 2022-04
Variant appearance in text: ABCA4: 2572G>A; Asp858Asn
PubMed Link:
34148116
Variant Present in the following documents:
439_2021_2303_MOESM1_ESM.pdf
439_2021_Article_2303.pdf
View BVdb publication page