Full data view for gene ORC6

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-20T>C r.(?) p.(=) Unknown - benign g.46723598T>C g.46689686T>C - - ORC6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.46723619T>C - ORC6(NM_014321.3):c.2T>C (p.(Met1?), p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.46723619T>C - ORC6(NM_014321.3):c.2T>C (p.(Met1?), p.M1?) - ORC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.449+5G>A r.spl? p.? Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.449+5G>A r.spl? p.? Unknown - likely pathogenic g.46727099G>A - ORC6(NM_014321.3):c.449+5G>A - ORC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.467T>C r.(?) p.(Val156Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.675T>C r.(=) p.(=) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 19 Mohammed Faruq
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