Unique variants in gene ITPR3

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Reported     

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     
?/. 1 - c.628-5C>T VUS - - g.33627238C>T - ITPR3:NM_002224.3:c.628-5C>T - ITPR3_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2777C>G VUS r.(?) p.(Thr926Ser) g.33639854C>G - ITPR3:c.2777C>G (T926S) - ITPR3_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.6868-7C>A VUS - - g.33657804C>A - ITPR3:NM_002224.3:c.6868-7C>A - ITPR3_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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