Variant #0000040167 (NC_000002.11:g.215840505_215840506del, ABCA12(NM_173076.2):c.5381+3_5381+4del)

Individual ID 00019744
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.215840505_215840506del
DNA change (hg38) g.214975781_214975782del
Published as 5381+3delAA
ISCN -
DB-ID ABCA12_000035
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 +/. 34i c.5381+3_5381+4del r.(spl?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019729 DNA SEQ blood - ABCA12 1 Marianne Vos (LOVD-team)