Genomic variant #0000248995

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.215851246A>G
DNA change (hg38) -
Published as ABCA12(NM_173076.2):c.4163+20T>C
ISCN -
DB-ID ABCA12_000063
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.99885 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ABCA12 NM_173076.2 -/. - c.4163+20T>C benign r.(=) p.(=)