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ABCA4 c.3727T>C ;(p.Y1243H)
Variant ID: 1-94502787-A-G
NM_000350.2(
ABCA4
):c.3727T>C;(p.Y1243H)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02
Variant appearance in text: ABCA4: 3727T>C; Tyr1243His; rs1036812400
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.
Bmc Genomics
Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW
Publication Date: 2014-08-23
Variant appearance in text: ABCA4: 3727T>C; Y1243H
PubMed Link:
25151476
Variant Present in the following documents:
12864_2013_Article_6386.pdf
View BVdb publication page