Unique variants in the C10orf2 gene

NOTE: gene name changed from C10orf2 to TWNK
Information The variants shown are described using the NM_021830.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Reported     

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     
+?/+? 1 2 c.1287C>T r.1287c>u p.= - pathogenic g.102749444C>T g.100989687C>T 1472C>T (silent) - C10orf2_000002 functional studies show decreased transcription (0.28 vs. 0.72); 1 Finnish family (com-het) PubMed: Nikali 2005 - rs80356541 Germline yes - - - - Anne Polvi
+/+ 3 3 c.1523A>G r.(1523a>g), r.(?), r.1523a>g p.(Tyr508Cys), p.Tyr508Cys - pathogenic g.102750231A>G g.100990474A>G 1708A>G (Y508C) - C10orf2_000001 Finnish major IOSCA variant, Finnish major IOSCA variant, 15 Finnish families (14 hom, 1 com-het), 1 more item PubMed: Nikali 2005 - rs80356540 Germline -, yes 8/712 controls (het) - - - Johan den Dunnen, Anne Polvi
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