All variants in the IRX5 gene

Information The variants shown are described using the NM_005853.5 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

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     
?/. - c.170C>T r.(?) p.(Pro57Leu) - VUS g.54965280C>T g.54931368C>T IRX5(NM_005853.5):c.170C>T (p.P57L) - IRX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.448G>C r.(?) p.(Ala150Pro) - likely pathogenic (recessive) g.54966608G>C g.54932696G>C - - IRX5_000002 - PubMed: Bonnard 2012 - - Germline yes - - - - Johan den Dunnen
+?/. 2 c.448G>C r.(?) p.(Ala150Pro) - likely pathogenic (recessive) g.54966608G>C g.54932696G>C - - IRX5_000002 - PubMed: Bonnard 2012 - - Germline yes - - - - Johan den Dunnen
+?/. 2 c.498C>A r.(?) p.(Asn166Lys) - likely pathogenic (recessive) g.54966658C>A g.54932746C>A - - IRX5_000001 - PubMed: Bonnard 2012 - - Germline yes - - - - Johan den Dunnen
+?/. 2 c.498C>A r.(?) p.(Asn166Lys) - likely pathogenic (recessive) g.54966658C>A g.54932746C>A - - IRX5_000001 - PubMed: Bonnard 2012 - - Germline yes - - - - Johan den Dunnen
+?/. 2 c.498C>A r.(?) p.(Asn166Lys) - likely pathogenic (recessive) g.54966658C>A g.54932746C>A - - IRX5_000001 - PubMed: Bonnard 2012 - - Germline yes - - - - Johan den Dunnen
+?/. - c.503G>A r.(?) p.(Arg168His) - likely pathogenic (recessive) g.54966663G>A - - - IRX5_000011 - PubMed: Roukoz 2019 - - Germline - - - - - Johan den Dunnen
-/. - c.763C>A r.(?) p.(Pro255Thr) - benign g.54967096C>A g.54933184C>A IRX5(NM_005853.6):c.763C>A (p.P255T) - IRX5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.799C>T r.(?) p.(Pro267Ser) - likely benign g.54967132C>T g.54933220C>T IRX5(NM_005853.5):c.799C>T (p.P267S) - IRX5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.805dup r.(?) p.(Arg269Profs*187) ACMG pathogenic (recessive) g.54967138dup g.54933226dup - - IRX5_000010 ACMG PVS1, PM2,PP1 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.887C>A r.(?) p.(Pro296Gln) - likely benign g.54967220C>A g.54933308C>A IRX5(NM_005853.5):c.887C>A (p.P296Q) - IRX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.933C>G r.(?) p.(Pro311=) - likely benign g.54967266C>G - IRX5(NM_005853.5):c.933C>G (p.P311=) - IRX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1265A>G r.(?) p.(His422Arg) - VUS g.54967598A>G g.54933686A>G IRX5(NM_005853.5):c.1265A>G (p.H422R) - IRX5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1421A>G r.(?) p.(Tyr474Cys) - VUS g.54967754A>G g.54933842A>G IRX5(NM_005853.5):c.1421A>G (p.Y474C) - IRX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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