Variant #0000408315 (NC_000007.13:g.87032498_87032500del, ABCB4(NM_018849.2):c.3609_3611del)

Individual ID 00183337
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.87032498_87032500del
DNA change (hg38) g.87403182_87403184del
Published as -
ISCN -
DB-ID ABCB4_000035
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Gunnar Schmidt
Database submission license No license selected
Created by Gunnar Schmidt
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB4 NM_018849.2 ?/. - c.3609_3611del r.(?) p.(Leu1205del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184298 DNA SEQ - - - 1 Gunnar Schmidt