Variant #0000040115 (NC_000002.11:g.(215855756_215862418)_(215862534_15865428)del, ABCA12(NM_173076.2):c.(3179+1_3180-1)_(3294+1_3295-1)del)

Individual ID 00019697
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.(215855756_215862418)_(215862534_15865428)del
DNA change (hg38) -
Published as del exon 23
ISCN -
DB-ID ABCA12_000001
Variant remarks -
Reference PubMed: Kelsell 2005
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 +/. 22i_23i c.(3179+1_3180-1)_(3294+1_3295-1)del r.(del) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019684 DNA SEQ ? - ABCA12 1 Marianne Vos (LOVD-team)