All variants in the CAST gene

Information The variants shown are described using the NM_001042440.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.85G>T r.(?) p.(Glu29Ter) - VUS g.96011252G>T g.96675548G>T CAST(NM_001042440.2):c.85G>T (p.?) - CAST_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.86A>G r.(?) p.(Glu29Gly) - VUS g.96011253A>G g.96675549A>G CAST(NM_001042440.2):c.86A>G (p.(Glu29Gly)) - CAST_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.138G>C r.(?) p.(Glu46Asp) - likely pathogenic g.96011305G>C g.96675601G>C CAST(NM_001042440.4):c.138G>C (p.E46D) - CAST_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.271-626A>T r.(=) p.(=) - likely benign g.96062567A>T - CAST(NM_001042440.4):c.271-626A>T - CAST_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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