Variant #0000040174 (NC_000002.11:g.215855757T>C, ABCA12(NM_173076.2):c.3295-2A>G)

Individual ID 00019749
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.215855757T>C
DNA change (hg38) g.214991033T>C
Published as IVS23-2A>G
ISCN -
DB-ID ABCA12_000041 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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA12 NM_173076.2 +/. 23i c.3295-2A>G r.[3295_3303del; 3295_3464del] p.[Tyr1099_Lys1101del; Tyr1099Leufs*44]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019734 DNA;RNA RT-PCR;SEQ ? - ABCA12 1 Marianne Vos (LOVD-team)