Genomic variant #0000338147

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46723598T>C
DNA change (hg38) -
Published as ORC6(NR_037620.1):c.41T>C, ORC6L(NM_014321.2):c.-20T>C (p.?)
ISCN -
DB-ID ORC6_000002 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) 0.34123 View details
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ORC6 NM_014321.3 -/. - c.-20T>C benign r.(?) p.(=)
VPS35 NM_018206.4 -/. - c.-553A>G benign r.(?) p.(=)