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.3160A>G r.(?) p.(Ile1054Val) - VUS g.73824159T>C g.75828078T>C UNC13D(NM_199242.2):c.3160A>G (p.I1054V) - UNC13D_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3160A>G r.(?) p.(Ile1054Val) - VUS g.73824159T>C g.75828078T>C UNC13D(NM_199242.2):c.3160A>G (p.I1054V) - UNC13D_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3160A>G r.(?) p.(Ile1054Val) - likely benign g.73824159T>C - UNC13D(NM_199242.2):c.3160A>G (p.I1054V) - UNC13D_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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