Full data view for gene CAST

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.85G>T r.(?) p.(Glu29Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.86A>G r.(?) p.(Glu29Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+?/. - c.138G>C r.(?) p.(Glu46Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271-626A>T r.(=) p.(=) Unknown - likely benign g.96062567A>T - CAST(NM_001042440.4):c.271-626A>T - CAST_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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