Full data view for gene ROGDI

Information The variants shown are described using the NM_024589.1 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:6 and 1-II:7, 5 unaffected siblings F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:7, 5 unaffected siblings F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 no known consanguinity of parents, affected siblings: Fam.AM 1-II:1 and 1-II:6, 5 unaffected siblings M no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 2-IV:2 and Fam.AM 2-IV:4, three unaffected siblings F yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:4, three unaffected siblings M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 2-IV:1 and Fam.AM 2-IV:2, three unaffected siblings M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 sibling: Fam.AM 3-V:3, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5 M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 sibling: Fam.AM 3-V:1, one unaffected sibling, related to Fam.AM 4 and Fam.AM 5 F yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze 02y - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 M no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 F no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 siblings: Fam.AM 4-V:5, 4-V:6, 4-V:7, 4-V:8, two unaffected siblings, related to Fam.AM 3 and Fam.AM 5 M no Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
+/+ 7 c.469C>T r.(?) p.(Arg157Ter) Both (homozygous) - pathogenic (recessive) g.4848632G>A g.4798631G>A - - ROGDI_000005 - PubMed: Mory et al. 2012 - - Unknown - - - - - DNA SEQ - - KTZS - PubMed: Mory 2012 one unaffected sibling, related to Fam.AM 3 and Fam.AM 4 M yes Israel Northern, Druze - - - - 1 Division of Human Genetics, Innsbruck
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