Variant #0000405573 (NC_000007.13:g.87035611A>G, ABCB4(NM_018849.2):c.3500T>C)

Individual ID 00180939
Chromosome 7
Allele Both (homozygous)
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.87035611A>G
DNA change (hg38) g.87406295A>G
Published as -
ISCN -
DB-ID ABCB4_000030
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.3500T>C r.(?) p.(Leu1167Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181879 DNA SEQ - - - 1 Gunnar Schmidt