Variant #0000668144 (NC_000017.10:g.73826509C>T, UNC13D(NM_199242.2):c.2764G>A)

Individual ID 00303520
Chromosome 17
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.73826509C>T
DNA change (hg38) g.75830428C>T
Published as -
ISCN -
DB-ID UNC13D_000079
Variant remarks -
Reference PubMed: Gernez 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
UNC13D NM_199242.2 +?/. - c.2764G>A r.(?) p.(Ala922Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304648 DNA SEQ - - CDC42 3 Johan den Dunnen