Variant #0000650456 (NC_000002.11:g.220075521C>T, ABCB6(NM_005689.2):c.2168G>A)

Individual ID 00292599
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.220075521C>T
DNA change (hg38) g.219210799C>T
Published as -
ISCN -
DB-ID ABCB6_000003 See all 2 reported entries
Variant remarks 12 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 12/2794 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00078 View details
Owner Mohammed Faruq
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     
ABCB6 NM_005689.2 +/. - c.2168G>A r.(?) p.(Arg723Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293767 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq