All variants in the UNC13D gene

Information The variants shown are described using the NM_199242.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.951+13T>G r.(=) p.(=) - benign g.73836086A>C g.75840005A>C UNC13D(NM_199242.2):c.951+13T>G - UNC13D_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.951+13T>G r.(=) p.(=) - VUS g.73836086A>C g.75840005A>C - - UNC13D_000024 conflicting interpretations of pathogenicity; 102 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140758914 Germline - 102/2795 individuals - 0 - Mohammed Faruq
?/. - c.951+13T>G r.(=) p.(=) - VUS g.73836086A>C g.75840005A>C - - UNC13D_000024 conflicting interpretations of pathogenicity; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140758914 Germline - 4/2795 individuals - 0 - Mohammed Faruq
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