Genomic variant #0000349730

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.215823027A>C
DNA change (hg38) -
Published as ABCA12(NM_173076.2):c.6091T>G (p.W2031G)
ISCN -
DB-ID ABCA12_000060 See all 2 reported entries
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ABCA12 NM_173076.2 ?/. - c.6091T>G VUS r.(?) p.(Trp2031Gly)