ABCB4 c.965T>C ;(p.L322P)

Variant ID: 7-87076390-A-G

NM_000443.3(ABCB4):c.965T>C;(p.L322P)

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:

Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.

Orphanet Journal Of Rare Diseases
Chen, Rong R; Yang, Feng-Xia FX; Tan, Yan-Fang YF; Deng, Mei M; Li, Hua H; Xu, Yi Y; Ouyang, Wen-Xian WX; Song, Yuan-Zong YZ
Publication Date: 2022-12-22

Variant appearance in text: ABCB4: Leu322Pro
PubMed Link: 36550572
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2597.pdf
View BVdb publication page