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ABCB4 c.3562_3582del ;(p.A1188_Q1194del)
Variant ID: 7-87032501-TTTGAGGTTGTCTGATGAGGGC-T
NM_000443.3(
ABCB4
):c.3562_3582del;(p.A1188_Q1194del)
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:
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Genome Biology
Maddirevula, Sateesh S; Kuwahara, Hiroyuki H; Ewida, Nour N; Shamseldin, Hanan E HE; Patel, Nisha N; Alzahrani, Fatema F; AlSheddi, Tarfa T; AlObeid, Eman E; Alenazi, Mona M; Alsaif, Hessa S HS; Alqahtani, Maha M; AlAli, Maha M; Al Ali, Hatoon H; Helaby, Rana R; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Hanna, Nadine N; Monies, Dorota D; Derar, Nada N; Alsagheir, Afaf A; Alhashem, Amal A; Alsaleem, Badr B; Alhebbi, Hamoud H; Wali, Sami S; Umarov, Ramzan R; Gao, Xin X; Alkuraya, Fowzan S FS
Publication Date: 2020-06-17
Variant appearance in text: ABCB4: 3561_3581del
PubMed Link:
32552793
Variant Present in the following documents:
Main text
View BVdb publication page