Variant #0000312944 (NC_000017.10:g.73827205T>C, UNC13D(NM_199242.2):c.2599A>G)

Chromosome 17
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.73827205T>C
DNA change (hg38) g.75831124T>C
Published as UNC13D(NM_199242.2):c.2599A>G (p.K867E)
ISCN -
DB-ID UNC13D_000009 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.35126 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     
UNC13D NM_199242.2 -/. - c.2599A>G r.(?) p.(Lys867Glu)