All transcript variants in gene ITPR3

Information The variants shown are described using the NM_002224.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.628-5C>T VUS r.spl? p.? g.33627238C>T - ITPR3(NM_002224.3):c.628-5C>T (p.?) - ITPR3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.913C>T VUS r.(?) p.(Arg305Cys) g.33630742C>T - ITPR3(NM_002224.3):c.913C>T (p.R305C) - chr6_006171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1154C>T VUS r.(?) p.(Ser385Leu) g.33632652C>T - ITPR3(NM_002224.3):c.1154C>T (p.(Ser385Leu)) - chr6_006172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1248+4C>T likely benign r.spl? p.? g.33632750C>T - ITPR3(NM_002224.3):c.1248+4C>T (p.?) - chr6_006173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2226C>A likely benign r.(?) p.(Asp742Glu) g.33638138C>A - ITPR3(NM_002224.3):c.2226C>A (p.(Asp742Glu)) - chr6_006174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2226C>T likely benign r.(?) p.(=) g.33638138C>T - ITPR3(NM_002224.3):c.2226C>T (p.D742=) - chr6_006175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2777C>G VUS r.(?) p.(Thr926Ser) g.33639854C>G - ITPR3(NM_002224.3):c.2777C>G (p.T926S) - ITPR3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.6868-7C>A VUS r.(=) p.(=) g.33657804C>A - ITPR3(NM_002224.3):c.6868-7C>A (p.(=)) - ITPR3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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