Variant #0000338147 (NC_000016.9:g.46723598T>C, VPS35(NM_018206.4):c.-553A>G)

Chromosome 16
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.46723598T>C
DNA change (hg38) g.46689686T>C
Published as -
ISCN -
DB-ID ORC6_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.34293 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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