Genomic variant #0000540513

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70231554G>A
DNA change (hg38) -
Published as DNA2(NM_001080449.2):c.68C>T (p.A23V)
ISCN -
DB-ID DNA2_000024
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00099 View details
Owner VKGL-NL
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
DNA2 NM_001080449.2 -?/. - c.68C>T likely benign r.(?) p.(Ala23Val)