Variant #0000563122 (NC_000017.10:g.73843958C>T, UNC13D(NM_199242.2):c.-3540G>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.73843958C>T
DNA change (hg38) g.75847877C>T
Published as WBP2(NM_012478.4):c.451G>A (p.G151R)
ISCN -
DB-ID UNC13D_000073
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) 3.0E-5 View details
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     
WBP2 NM_012478.3 ?/. - c.451G>A r.(?) p.(Gly151Arg)
UNC13D NM_199242.2 ?/. - c.-3540G>A r.(?) p.(=)