Variant #0000616821 (NC_000017.10:g.73824877C>T, UNC13D(NM_199242.2):c.3142G>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.73824877C>T
DNA change (hg38) g.75828796C>T
Published as UNC13D(NM_199242.2):c.3142G>A (p.A1048T)
ISCN -
DB-ID UNC13D_000074
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UNK NM_001080419.2 -?/. - c.*4379C>T r.(=) p.(=)
UNC13D NM_199242.2 -?/. - c.3142G>A r.(?) p.(Ala1048Thr)