Variant #0000040185 (NC_000002.11:g.215854178C>G, ABCA12(NM_173076.2):c.3704G>C)

Individual ID 00019756
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.215854178C>G
DNA change (hg38) g.214989454C>G
Published as Trp1235Ser
ISCN -
DB-ID ABCA12_000050
Variant remarks -
Reference PubMed: Sakai 2009
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 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 +/. 26 c.3704G>C r.(?) p.(Trp1235Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019741 DNA SEQ ? - ABCA12 2 Marianne Vos (LOVD-team)