All variants in the TTC19 gene

Information The variants shown are described using the NM_017775.3 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     
+/. 7 c.1019T>G r.(?) p.(Leu340*) - likely pathogenic g.15930712T>G g.16027398T>G 656T>G; L219X - TTC19_000002 - PubMed: Ghezzi 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.1019T>G r.(?) p.(Leu340*) - likely pathogenic g.15930712T>G g.16027398T>G 656T>G; L219X - TTC19_000002 - PubMed: Ghezzi 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.1019T>G r.(?) p.(Leu340*) - likely pathogenic g.15930712T>G g.16027398T>G 656T>G; L219X - TTC19_000002 - PubMed: Ghezzi 2011 - - Germline - - - 0 - Johan den Dunnen
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