Variant #0000616820 (NC_000017.10:g.73824159T>C, UNC13D(NM_199242.2):c.3160A>G)

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.73824159T>C
DNA change (hg38) g.75828078T>C
Published as UNC13D(NM_199242.2):c.3160A>G (p.I1054V)
ISCN -
DB-ID UNC13D_000045 See all 3 reported entries
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) 0.00051 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     
UNK NM_001080419.2 ?/. - c.*3661T>C r.(=) p.(=)
UNC13D NM_199242.2 ?/. - c.3160A>G r.(?) p.(Ile1054Val)