All variants in the UNC13D gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.2828A>G r.(?) p.(Asn943Ser) - VUS g.73826445T>C g.75830364T>C UNC13D(NM_199242.2):c.2828A>G (p.N943S) - UNC13D_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2828A>G r.(?) p.(Asn943Ser) - likely benign g.73826445T>C g.75830364T>C - - UNC13D_000051 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147748627 Germline - 1/2791 individuals - 0 - Mohammed Faruq
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