Variant #0000650462 (NC_000002.11:g.220083227C>T, ABCB6(NM_005689.2):c.169G>A)

Individual ID 00292605
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.220083227C>T
DNA change (hg38) g.219218505C>T
Published as -
ISCN -
DB-ID ABCB6_000041
Variant remarks 10 heterozygous, no homozygous; {DB:CLININ2:220083227-CT}
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 10/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00019 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB6 NM_005689.2 +/. - c.169G>A r.(?) p.(Ala57Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000293773 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq