Genomic variant #0000040116

Individual ID 00019698
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.215809745delG
DNA change (hg38) g.214945021delG
Published as 7541delC
ISCN -
DB-ID ABCA12_000002 See all 8 reported entries
Variant remarks -
Reference PubMed: Kelsell 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Marianne Vos (LOVD-team)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ABCA12 NM_173076.2 +/. 49 c.7323delC - r.(?) p.(Val2442Serfs*22)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019685 DNA SEQ ? - ABCA12 1 Marianne Vos (LOVD-team)