All variants in the TTC19 gene

Information The variants shown are described using the NM_017775.3 transcript reference sequence.

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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     
+/. 5 c.880C>T r.(?) p.(Gln294*) - likely pathogenic g.15929902C>T g.16026588C>T 517C>T;Q173X - TTC19_000001 - PubMed: Ghezzi 2011 - - Germline - - - 0 - Johan den Dunnen
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