ABCB4 c.2793_2794insA ;(p.Q932Tfs*11)

Variant ID: 7-87041339-G-GT

NM_000443.3(ABCB4):c.2793_2794insA;(p.Q932Tfs*11)

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:

Mdr3 gene mutation in preterm infants with parenteral nutrition-associated cholestasis.

Molecular Genetics & Genomic Medicine
Yang, Xiufang X; Liu, Guosheng G; Yi, Bing B
Publication Date: 2022-03

Variant appearance in text: MDR3: 2793insA
PubMed Link: 35150476
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1875.pdf
View BVdb publication page