Unique variants in the TRHR gene

Information The variants shown are described using the NM_003301.5 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Reported     

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     
-/. 1 - c.105T>C r.(?) p.(Ile35=) - benign g.110099846T>C g.109087617T>C TRHR(NM_003301.7):c.105T>C (p.I35=) - TRHR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.123A>G r.(?) p.(Val41=) - benign g.110099864A>G g.109087635A>G TRHR(NM_003301.7):c.123A>G (p.V41=) - TRHR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.177C>T r.(?) p.(Pro59=) - benign g.110099918C>T - TRHR(NM_003301.7):c.177C>T (p.P59=) - TRHR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 2 c.392T>C r.(?) p.(Ile131Thr) ACMG likely pathogenic (recessive) g.110100133T>C g.109087904T>C - - TRHR_000009 - PubMed: Plachy 2019 ClinVar-689396 rs771222349 Germline ? - - - - Johan den Dunnen, Marketa Wayhelova
-/. 1 - c.624C>T r.(?) p.(Thr208=) - benign g.110100365C>T - TRHR(NM_003301.7):c.624C>T (p.T208=) - TRHR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1065C>T r.(?) p.(Ser355=) - benign g.110131552C>T g.109119323C>T TRHR(NM_003301.7):c.1065C>T (p.S355=) - TRHR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1066G>A r.(?) p.(Val356Ile) - benign g.110131553G>A g.109119324G>A TRHR(NM_003301.7):c.1066G>A (p.V356I) - TRHR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1116C>T r.(?) p.(Val372=) - benign g.110131603C>T g.109119374C>T TRHR(NM_003301.7):c.1116C>T (p.V372=) - TRHR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1149T>C r.(?) p.(Ser383=) - likely benign g.110131636T>C - TRHR(NM_003301.7):c.1149T>C (p.S383=) - TRHR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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