Variant #0000040173 (NC_000002.11:g.215851274_215851276del, NM_173076.2:c.4158_4160del (ABCA12))

Individual ID 00019748
Chromosome 2
Allele Maternal (confirmed)
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.215851274_215851276del
DNA change (hg38) g.214986550_214986552del
Published as 4158_4160delTAC
ISCN -
DB-ID ABCA12_000040 See all 2 reported entries
Variant remarks -
Reference PubMed: Akiyama 2006
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 2014-08-19 22:47:55 +02:00 (CEST)
Date last edited 2020-06-11 15:10:57 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA12 NM_173076.2 +/. 28 c.4158_4160del r.(?) p.(Thr1387del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019733 DNA SEQ ? - ABCA12 2 Marianne Vos (LOVD-team)


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