Variant #0000725800 (NC_000016.9:g.46727099G>A, VPS35(NM_018206.4):c.-4054C>T)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.46727099G>A
DNA change (hg38) -
Published as ORC6(NM_014321.3):c.449+5G>A
ISCN -
DB-ID ORC6_000004 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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