Full data view for gene THRA

Information The variants shown are described using the NM_001190918.1 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.351C>T benign r.(?) p.(=) Unknown g.38240216C>T - THRA(NM_003250.5):c.351C>T (p.=) - THRA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577-4C>T likely benign r.spl? p.? Unknown g.38242956C>T - THRA(NM_001190918.1):c.577-4C>T (p.?) - THRA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.767T>C VUS r.(?) p.(Met256Thr) Unknown g.38244538T>C - THRA(NM_003250.5):c.767T>C (p.(Met256Thr)) - THRA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.832G>C VUS r.(?) p.(Gly278Arg) Unknown g.38244603G>C - THRA(NM_003250.5):c.832G>C (p.(Gly278Arg)) - THRA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.855G>A benign r.(?) p.(=) Unknown g.38244626G>A - THRA(NM_003250.5):c.855G>A (p.=) - THRA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986G>A VUS r.(?) p.(Arg329His) Unknown g.38245462G>A - THRA(NM_001190918.1):c.986G>A (p.(Arg329His)) - THRA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1110+86dup likely pathogenic r.(=) p.(=) Unknown g.38245672dup - THRA:NM_199334,3:c.1196dup (Leu400fs) - THRA_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1110+86dup pathogenic r.(=) p.(=) Unknown g.38245672dup - THRA(NM_199334.3):c.1196dupC (p.L400Tfs*7) - THRA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*728G>A likely benign r.(=) p.(=) Unknown g.38250363G>A - NR1D1(NM_021724.4):c.1447C>T (p.(Arg483Cys)) - THRA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1689T>C VUS r.(=) p.(=) Unknown g.38251324T>C - NR1D1(NM_021724.4):c.1298A>G (p.(Gln433Arg)) - THRA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2307C>G likely benign r.(=) p.(=) Unknown g.38251942C>G - THRA(NM_001190918.1):c.*2307C>G (p.(=)) - NR1D1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2354G>A likely benign r.(=) p.(=) Unknown g.38251989G>A - NR1D1(NM_021724.4):c.956C>T (p.(Ala319Val)) - NR1D1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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