Variant #0000040162 (NC_000002.11:g.215854297G>A, NM_173076.2:c.3673C>T (ABCA12))

Individual ID 00019740
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.215854297G>A
DNA change (hg38) g.214989573G>A
Published as -
ISCN -
DB-ID ABCA12_000034
Variant remarks -
Reference PubMed: Thomas 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-08-18 22:36:54 +02:00 (CEST)
Date last edited 2016-11-16 21:19:08 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA12 NM_173076.2 +/. 25 c.3673C>T r.(?) p.(Arg1225*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019725 DNA SEQ blood - ABCA12 2 Marianne Vos (LOVD-team)


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