Genomic variant #0000040182

Individual ID 00019754
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.215839577G>A
DNA change (hg38) g.214974853G>A
Published as Pro1798Leu
ISCN -
DB-ID ABCA12_000047
Variant remarks unknown variant found 2nd chromosome
Reference PubMed: Sakai 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
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 +/. 35 c.5393C>T - r.(?) p.(Pro1798Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019739 DNA SEQ ? - ABCA12 1 Marianne Vos (LOVD-team)