All transcript variants in gene ITPR3

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

12 entries on 1 page. Showing entries 1 - 12.
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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.913C>T r.(?) p.(Arg305Cys) - VUS g.33630742C>T g.33662965C>T ITPR3(NM_002224.3):c.913C>T (p.R305C) - ITPR3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1010C>T r.(?) p.(Ala337Val) - likely benign g.33631519C>T g.33663742C>T ITPR3(NM_002224.3):c.1010C>T (p.A337V) - ITPR3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1140C>T r.(?) p.(Phe380=) - - g.33631649C>T - ITPR3(NM_002224.3):c.1140C>T (p.F380=) - ITPR3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1609C>T r.(?) p.(Arg537Trp) - VUS g.33634963C>T g.33667186C>T ITPR3(NM_002224.3):c.1609C>T (p.R537W) - ITPR3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1647C>T r.(?) p.(Tyr549=) - likely benign g.33635001C>T g.33667224C>T ITPR3(NM_002224.3):c.1647C>T (p.Y549=) - ITPR3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1714-3C>A r.spl? p.? - - g.33635566C>A - ITPR3(NM_002224.3):c.1714-3C>A (p.?) - ITPR3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2226C>A r.(?) p.(Asp742Glu) - likely benign g.33638138C>A g.33670361C>A ITPR3(NM_002224.3):c.2226C>A (p.(Asp742Glu)) - ITPR3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2226C>T r.(?) p.(Asp742=) - likely benign g.33638138C>T g.33670361C>T ITPR3(NM_002224.3):c.2226C>T (p.D742=) - ITPR3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2777C>G r.(?) p.(Thr926Ser) - VUS g.33639854C>G g.33672077C>G ITPR3(NM_002224.3):c.2777C>G (p.T926S) - ITPR3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.5105C>T r.(?) p.(Ser1702Leu) - - g.33652433C>T - ITPR3(NM_002224.3):c.5105C>T (p.S1702L) - ITPR3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6837G>A r.(?) p.(Gly2279=) - likely benign g.33657157G>A g.33689380G>A ITPR3(NM_002224.3):c.6837G>A (p.G2279=) - ITPR3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7743C>T r.(?) p.(Thr2581=) - likely benign g.33661440C>T g.33693663C>T ITPR3(NM_002224.3):c.7743C>T (p.T2581=) - ITPR3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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