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.2477_2480del r.(?) p.(Leu826GlnfsTer20) - pathogenic g.73827400_73827403del g.75831319_75831322del UNC13D(NM_199242.2):c.2477_2480delTCAC (p.L826Qfs*20) - UNC13D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2477_2480del r.(?) p.(Leu826GlnfsTer20) - pathogenic g.73827400_73827403del g.75831319_75831322del UNC13D(NM_199242.2):c.2477_2480delTCAC (p.L826Qfs*20) - UNC13D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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