Variant #0000731301 (NC_000007.13:g.87145853_87145856del, ABCB1(NM_000927.4):c.3053_3056del)

Individual ID 00332377
Chromosome 7
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.87145853_87145856del
DNA change (hg38) g.87516537_87516540del
Published as 3053_3056delITTGA
ISCN -
DB-ID ABCB1_000014
Variant remarks -
Reference PubMed: Baudou 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB1 NM_000927.4 +/. - c.3053_3056del r.(?) p.(Ile1018Thrfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333600 DNA SEQ - - ABCB1 2 Johan den Dunnen