Variant #0000040158 (NC_000002.11:g.215818781_215818783del, ABCA12(NM_173076.2):c.6443_6445del)

Individual ID 00019737
Chromosome 2
Allele Both (homozygous)
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.215818781_215818783del
DNA change (hg38) g.214954057_214954059del
Published as -
ISCN -
DB-ID ABCA12_000030
Variant remarks -
Reference PubMed: Thomas 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA12 NM_173076.2 +/. 44 c.6443_6445del r.(?) p.(Pro2141del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019722 DNA SEQ blood - ABCA12 1 Marianne Vos (LOVD-team)