ABCB4 c.1230+1G>T

Variant ID: 7-87072978-C-A

NM_000443.3(ABCB4):c.1230+1G>T

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:

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Genes
Jeyaraj, Rebecca R; Bounford, Kirsten McKay KM; Ruth, Nicola N; Lloyd, Carla C; MacDonald, Fiona F; Hendriksz, Christian J CJ; Baumann, Ulrich U; Gissen, Paul P; Kelly, Deirdre D
Publication Date: 2021-11-21

Variant appearance in text: ABCB4: 1230+1G>T
PubMed Link: 34828443
Variant Present in the following documents:
  • Main text
  • genes-12-01837.pdf
View BVdb publication page