ABCB4 c.3257A>C ;(p.Y1086S)

Variant ID: 7-87037375-T-G

NM_000443.3(ABCB4):c.3257A>C;(p.Y1086S)

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:

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Hepatology Communications
Schatz, Stephanie Barbara SB; Jüngst, Christoph C; Keitel-Anselmo, Verena V; Kubitz, Ralf R; Becker, Christina C; Gerner, Patrick P; Pfister, Eva-Doreen ED; Goldschmidt, Imeke I; Junge, Norman N; Wenning, Daniel D; Gehring, Stephan S; Arens, Stefan S; Bretschneider, Dirk D; Grothues, Dirk D; Engelmann, Guido G; Lammert, Frank F; Baumann, Ulrich U
Publication Date: 2018-05

Variant appearance in text: ABCB4: 3257A>C
PubMed Link: 29761167
Variant Present in the following documents:
  • Main text
  • HEP4-2-504.pdf
View BVdb publication page