Unique variants in the ORC6 gene

Information The variants shown are described using the NM_014321.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

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     
-/. 1 - c.-20T>C r.(?) p.(=) - benign g.46723598T>C g.46689686T>C - - ORC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 3 - c.2T>C r.(?) p.(Met1?) - likely pathogenic g.46723619T>C g.46689707T>C ORC6(NM_014321.3):c.2T>C (p.(Met1?), p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 2 - c.449+5G>A r.spl? p.? - likely pathogenic g.46727099G>A g.46693187G>A ORC6(NM_014321.3):c.449+5G>A - ORC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.467T>C r.(?) p.(Val156Ala) - likely benign g.46729491T>C g.46695579T>C ORC6(NM_014321.3):c.467T>C (p.(Val156Ala)) - ORC6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.675T>C r.(=) p.(=) - likely benign g.46731413T>C g.46697501T>C - - ORC6_000006 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34343511 Germline - 19/2795 individuals - - - Mohammed Faruq
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