Variant #0000708735 (NC_000002.11:g.215855511C>G, ABCA12(NM_173076.2):c.3539G>C)

Individual ID 00324422
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.215855511C>G
DNA change (hg38) -
Published as G3539C
ISCN -
DB-ID ABCA12_000098
Variant remarks -
Reference PubMed: Cao 2020
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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 +/. - c.3539G>C r.(?) p.(Ser1180Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325612 DNA SEQ;SEQ-NG - WES ABCA12 1 Johan den Dunnen