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.2782C>T r.(?) p.(Arg928Cys) - likely benign g.73826491G>A g.75830410G>A UNC13D(NM_199242.2):c.2782C>T (p.(Arg928Cys), p.R928C) - UNC13D_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2782C>T r.(?) p.(Arg928Cys) - likely benign g.73826491G>A g.75830410G>A UNC13D(NM_199242.2):c.2782C>T (p.(Arg928Cys), p.R928C) - UNC13D_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2782C>T r.(?) p.(Arg928Cys) - likely benign g.73826491G>A g.75830410G>A - - UNC13D_000006 74 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35037984 Germline - 74/2790 individuals - 0 - Mohammed Faruq
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