Genomic variant #0000040192

Individual ID 00019762
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.215560710C>T
DNA change (hg38) -
Published as 4102G>A (W1293*)
ISCN -
DB-ID ABCA12_000049
Variant remarks -
Reference PubMed: Rajpar 2006
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 +/. 27 c.3882G>A - r.(?) p.(Trp1294*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019747 DNA SEQ ? - ABCA12 1 Marianne Vos (LOVD-team)