ABCB4 c.833+5G>A

Variant ID: 7-87079279-C-T

NM_000443.3(ABCB4):c.833+5G>A

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:

SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics
Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST
Publication Date: 2023-02-06

Variant appearance in text: ABCB4: 833+5G>A
PubMed Link: 36747048
Variant Present in the following documents:
  • 41588_2022_1293_MOESM4_ESM.xlsx, sheet 1
  • 41588_2022_1293_MOESM16_ESM.xlsx, sheet 1
  • 41588_2022_1293_MOESM16_ESM.xlsx, sheet 2
  • 41588_2022_1293_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page