ABCB4 c.1934A>G ;(p.N645S)

Variant ID: 7-87056196-T-C

NM_000443.3(ABCB4):c.1934A>G;(p.N645S)

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:

Comparative Genomics Identifies Putative Interspecies Mechanisms Underlying Crbn-Sall4-Linked Thalidomide Embryopathy.

Frontiers In Genetics
Kowalski, Thayne Woycinck TW; Caldas-Garcia, Gabriela Barreto GB; Gomes, Julia do Amaral JDA; Fraga, Lucas Rosa LR; Schuler-Faccini, Lavínia L; Recamonde-Mendoza, Mariana M; Paixão-Côrtes, Vanessa Rodrigues VR; Vianna, Fernanda Sales Luiz FSL
Publication Date: 2021

Variant appearance in text: ABCB4: N645S; rs1218922674
PubMed Link: 34249098
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 7
View BVdb publication page