Variant #0000563097 (NC_000017.10:g.73826673G>A, UNC13D(NM_199242.2):c.2695C>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.73826673G>A
DNA change (hg38) g.75830592G>A
Published as UNC13D(NM_199242.2):c.2695C>T (p.R899*)
ISCN -
DB-ID UNC13D_000007 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) 2.0E-5 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     
UNK NM_001080419.2 +/. - c.*6175G>A r.(=) p.(=)
UNC13D NM_199242.2 +/. - c.2695C>T r.(?) p.(Arg899Ter)