Variant #0000040178 (NC_000002.11:g.215851274_215851276del, ABCA12(NM_173076.2):c.4158_4160del)

Individual ID 00019751
Chromosome 2
Allele Parent #2
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.215851274_215851276del
DNA change (hg38) g.214986550_214986552del
Published as 4158_4160delTAC
ISCN -
DB-ID ABCA12_000040 See all 2 reported entries
Variant remarks -
Reference PubMed: Akiyama 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 +/. 28 c.4158_4160del r.(?) p.(Thr1387del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019736 DNA SEQ ? - ABCA12 2 Marianne Vos (LOVD-team)