Full data view for gene OXR1

Information The variants shown are described using the NM_001198533.1 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. - NM_018002.3:c.1100C>G r.(?) p.(Ser367*) Paternal (confirmed) - pathogenic (recessive) g.107718849C>G g.106706621C>G - - OXR1_000003 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID Fam1PatII1 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - 0 - - 1 Johan den Dunnen
+/. - NM_018002.3:c.1324del r.(?) p.(Ser442Valfs*2) Both (homozygous) - pathogenic (recessive) g.107719073del g.106706845del 1324delA - OXR1_000004 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID Fam2PatII3 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - Maghreb, NW Africa - 0 - - 1 Johan den Dunnen
+/. - NM_018002.3:c.2163+1G>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.107751812G>T g.106739584G>T NM_018002.3:c.2082+1G>T - OXR1_000005 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID Fam1PatII1 PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - white - 0 - - 1 Johan den Dunnen
+/. - NM_018002.3:c.2317-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.107754449G>C g.106742221G>C NM_018002.3:c.2236-1G>C - OXR1_000006 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ - - ID Fam3PatII1 PubMed: Wang 2019 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F yes - Arab 11y 0 - - 3 Johan den Dunnen
+/. - NM_018002.3:c.2317-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.107754449G>C g.106742221G>C NM_018002.3:c.2236-1G>C - OXR1_000006 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID Fam3PatII2 PubMed: Wang 2019 - M yes - Arab - 0 - - 1 Johan den Dunnen
+/. - NM_018002.3:c.2317-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.107754449G>C g.106742221G>C NM_018002.3:c.2236-1G>C - OXR1_000006 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ID Fam3PatII3 PubMed: Wang 2019 - M yes - Arab - 0 - - 1 Johan den Dunnen
-?/. - c.140T>C r.(?) p.(Ile47Thr) Unknown - likely benign g.107531287T>C g.106519059T>C OXR1(NM_001198533.1):c.140T>C (p.I47T) - OXR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1957-11275T>C r.(=) p.(=) Unknown - likely pathogenic g.107738473T>C - OXR1(NM_001198534.1):c.2T>C (p.M1?) - OXR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2242T>A r.(?) p.(Leu748Met) Unknown - VUS g.107752649T>A g.106740421T>A OXR1(NM_001198533.1):c.2242T>A (p.L748M) - OXR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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