Variant #0000319296 (NC_000017.10:g.73831566G>A, UNC13D(NM_199242.2):c.1772C>T)

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.73831566G>A
DNA change (hg38) g.75835485G>A
Published as UNC13D(NM_199242.2):c.1772C>T (p.P591L)
ISCN -
DB-ID UNC13D_000018 See all 2 reported entries
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) 0.00067 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UNC13D NM_199242.2 ?/. - c.1772C>T r.(?) p.(Pro591Leu)