Variant #0000040125 (NC_000002.11:g.215901592A>G, ABCA12(NM_173076.2):c.985+85T>C)

Individual ID 00019704
Chromosome 2
Allele Paternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.215901592A>G
DNA change (hg38) g.215036868A>G
Published as -
ISCN -
DB-ID ABCA12_000009
Variant remarks -
Reference PubMed: Kelsell 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 -/. 8i c.985+85T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019691 DNA SEQ ? - ABCA12 3 Marianne Vos (LOVD-team)