Genomic variant #0000338148

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.46727099G>A
DNA change (hg38) -
Published as ORC6L(NM_014321.2):c.449+5G>A (p.?)
ISCN -
DB-ID ORC6_000004
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ORC6 NM_014321.3 +?/. - c.449+5G>A likely pathogenic r.spl? p.?
VPS35 NM_018206.4 +?/. - c.-4054C>T likely pathogenic r.(?) p.(=)