Variant #0000616823 (NC_000017.10:g.73837042T>C, UNC13D(NM_199242.2):c.610A>G)

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.73837042T>C
DNA change (hg38) g.75840961T>C
Published as UNC13D(NM_199242.2):c.610A>G (p.M204V)
ISCN -
DB-ID UNC13D_000043
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) 0.00065 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.*5773A>G r.(=) p.(=)
UNC13D NM_199242.2 -?/. - c.610A>G r.(?) p.(Met204Val)