Transcript #00010232

Transcript name inositol 1,4,5-trisphosphate receptor, type 3
Gene name ITPR3 (inositol 1,4,5-trisphosphate receptor, type 3)
Chromosome 6
Transcript - NCBI ID NM_002224.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002215.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

8 entries on 1 page. Showing entries 1 - 8.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.628-5C>T VUS r.spl? p.?
?/. - c.913C>T VUS r.(?) p.(Arg305Cys)
?/. - c.1154C>T VUS r.(?) p.(Ser385Leu)
-?/. - c.1248+4C>T likely benign r.spl? p.?
-?/. - c.2226C>A likely benign r.(?) p.(Asp742Glu)
-?/. - c.2226C>T likely benign r.(?) p.(=)
?/. - c.2777C>G VUS r.(?) p.(Thr926Ser)
?/. - c.6868-7C>A VUS r.(=) p.(=)
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