Variant #0000129993 (NC_000002.11:g.215880304del, ABCA12(NM_173076.2):c.1866del)

Individual ID 00080801
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.215880304del
DNA change (hg38) g.215015580del
Published as -
ISCN -
DB-ID ABCA12_000058
Variant remarks -
Reference PubMed: Trujillano 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Daniel Trujillano
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 +?/. - c.1866del r.(?) p.(Cys622*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080913 DNA SEQ;SEQ-NG - - ABCA12 2 Daniel Trujillano