Variant #0000680580 (NC_000016.9:g.46723619T>C, VPS35(NM_018206.4):c.-574A>G)

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.46723619T>C
DNA change (hg38) -
Published as ORC6(NM_014321.3):c.2T>C (p.(Met1?), p.M1?)
ISCN -
DB-ID ORC6_000003 See all 3 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) 0.00029 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ORC6 NM_014321.3 +?/. - c.2T>C r.(?) p.(Met1?)
VPS35 NM_018206.4 +?/. - c.-574A>G r.(?) p.(=)