Variant #0000315215 (NC_000017.10:g.73826120C>T, UNC13D(NM_199242.2):c.2943G>A)

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.73826120C>T
DNA change (hg38) g.75830039C>T
Published as UNC13D(NM_199242.2):c.2943G>A (p.E981=)
ISCN -
DB-ID UNC13D_000004
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) 0.05165 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UNK NM_001080419.2 -/. - c.*5622C>T r.(=) p.(=)
UNC13D NM_199242.2 -/. - c.2943G>A r.(?) p.(Glu981=)