Full data view for gene OAS1

Information The variants shown are described using the NM_016816.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.139C>T r.(?) p.(Arg47*) Unknown - likely benign g.113344983C>T - OAS1(NM_001320151.2):c.139C>T (p.R47*), OAS1(NM_016816.4):c.139C>T (p.R47*) - OAS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139C>T r.(?) p.(Arg47*) Unknown - VUS g.113344983C>T - OAS1(NM_001320151.2):c.139C>T (p.R47*), OAS1(NM_016816.4):c.139C>T (p.R47*) - OAS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163G>A r.(?) p.(Val55Met) Unknown - VUS g.113345007G>A g.112907202G>A OAS1(NM_016816.3):c.163G>A (p.V55M) - OAS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.227C>T r.(?) p.(Ala76Val) Maternal (confirmed) - pathogenic g.113346387C>T g.112908582C>T - - OAS1_000001 all three affecteds have the same de novo variant (0.04 in mother) PubMed: Cho 2018 - - De novo yes - - - - DNA SEQ, SEQ-NG - WES ? 29455859-FamA PubMed: Cho 2018 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M no Japan - - - - - 3 Johan den Dunnen
+/. - c.326G>A r.(?) p.(Cys109Tyr) Unknown - pathogenic g.113346486G>A g.112908681G>A - - OAS1_000002 - PubMed: Cho 2018 - - De novo - - - - - DNA SEQ - - ? 29455859-FamB PubMed: Cho 2018 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - 03y - - - 1 Johan den Dunnen
-?/. - c.428A>G r.(?) p.(Glu143Gly) Unknown - likely benign g.113346588A>G - OAS1(NM_001320151.2):c.428A>G (p.E143G) - OAS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.470-6G>A r.(=) p.(=) Unknown - likely benign g.113348850G>A - OAS1(NM_001320151.2):c.470-6G>A, OAS1(NM_016816.3):c.470-6G>A - OAS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.470-6G>A r.(=) p.(=) Unknown - likely benign g.113348850G>A - OAS1(NM_001320151.2):c.470-6G>A, OAS1(NM_016816.3):c.470-6G>A - OAS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.592C>G r.(?) p.(Leu198Val) Unknown - likely pathogenic g.113348978C>G g.112911173C>G - - OAS1_000003 - PubMed: Cho 2018 - - De novo - - - - - DNA SEQ - - ? 29455859-FamC PubMed: Cho 2018 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - >02y - - - 1 Johan den Dunnen
-?/. - c.654+27G>T r.(=) p.(=) Unknown - likely benign g.113349067G>T - OAS1(NM_016816.4):c.654+27G>T - OAS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710T>C r.(?) p.(Val237Ala) Unknown - VUS g.113354369T>C - OAS1(NM_016816.3):c.710T>C (p.V237A) - OAS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.760G>A r.(?) p.(Gly254Arg) Unknown - likely benign g.113354419G>A - OAS1(NM_016816.2):c.760G>A (p.(Gly254Arg)) - OAS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876G>A r.(?) p.(Thr292=) Unknown - likely benign g.113354535G>A - OAS1(NM_001320151.2):c.876G>A (p.T292=), OAS1(NM_016816.3):c.876G>A (p.T292=) - OAS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876G>A r.(?) p.(Thr292=) Unknown - likely benign g.113354535G>A - OAS1(NM_001320151.2):c.876G>A (p.T292=), OAS1(NM_016816.3):c.876G>A (p.T292=) - OAS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.890T>G r.(?) p.(Val297Gly) Unknown - likely benign g.113355357T>G - OAS1(NM_016816.4):c.890T>G (p.V297G) - OAS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.926G>A r.(?) p.(Gly309Asp) Unknown - VUS g.113355393G>A - OAS1(NM_016816.3):c.926G>A (p.G309D) - OAS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.944G>A r.(?) p.(Gly315Asp) Unknown - likely benign g.113355411G>A - OAS1(NM_016816.3):c.944G>A (p.G315D) - OAS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.959C>T r.(?) p.(Ala320Val) Unknown - VUS g.113355426C>T - OAS1(NM_016816.3):c.959C>T (p.A320V) - OAS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>T r.(?) p.(Val340Leu) Unknown - VUS g.113355485G>T - OAS1(NM_016816.4):c.1018G>T (p.V340L) - OAS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1039-1G>A r.spl p.? Unknown - likely pathogenic g.113357193G>A g.112919388G>A - - OAS1_000011 - - - rs10774671 Germline - - - - - DNA PCRdig blood - MLRS - - - M no Nigeria - - - - - 1 Subulade Ademola
-?/. - c.1047C>T r.(?) p.(Ser349=) Unknown - likely benign g.113357202C>T - OAS1(NM_016816.4):c.1047C>T (p.S349=) - OAS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1097G>T r.(?) p.(Gly366Val) Unknown - likely benign g.113357252G>T - OAS1(NM_016816.4):c.1097G>T (p.G366V) - OAS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1140C>T r.(?) p.(Pro380=) Unknown - VUS g.113357295C>T - OAS1(NM_001032409.2):c.1042C>T (p.Q348*) - OAS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1152G>A r.(?) p.(=) Unknown - likely benign g.113357307G>A - OAS1(NM_001032409.3):c.1054G>A (p.G352S) - OAS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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