Variant #0000040197 (NC_000002.11:g.215843554C>T, ABCA12(NM_173076.2):c.4951G>A)

Individual ID 00019767
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.215843554C>T
DNA change (hg38) g.214978830C>T
Published as -
ISCN -
DB-ID ABCA12_000056 See all 2 reported entries
Variant remarks -
Reference PubMed: Lefevre 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 +/. 32 c.4951G>A r.(?) p.(Gly1651Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019752 DNA SEQ ? - ABCA12 1 Marianne Vos (LOVD-team)