All variants in the CSTA gene

Information The variants shown are described using the NM_005213.3 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     
-/. - c.105C>T r.(?) p.(Tyr35=) - benign g.122056432C>T g.122337585C>T CSTA(NM_005213.4):c.105C>T (p.Y35=) - CSTA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.172C>T r.(?) p.(Arg58Ter) - pathogenic g.122060289C>T g.122341442C>T - - CSTA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.280G>A r.(?) p.(Glu94Lys) - VUS g.122060397G>A g.122341550G>A CSTA(NM_005213.4):c.280G>A (p.E94K) - CSTA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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