Full data view for gene THRB

Information The variants shown are described using the NM_000461.4 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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.22+4T>A r.spl? p.? Unknown - benign g.24270425A>T g.24228934A>T THRB(NM_001252634.1):c.22+4T>A, THRB(NM_001252634.2):c.22+4T>A - THRB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22+4T>A r.spl? p.? Unknown - likely benign g.24270425A>T g.24228934A>T THRB(NM_001252634.1):c.22+4T>A, THRB(NM_001252634.2):c.22+4T>A - THRB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.22+16del r.(=) p.(=) Unknown - benign g.24270423del g.24228932del THRB(NM_001252634.1):c.22+16delT, THRB(NM_001252634.2):c.22+16delT - THRB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.22+16del r.(=) p.(=) Unknown - benign g.24270423del g.24228932del THRB(NM_001252634.1):c.22+16delT, THRB(NM_001252634.2):c.22+16delT - THRB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.22+16dup r.(=) p.(=) Unknown - benign g.24270423dup g.24228932dup THRB(NM_001252634.2):c.22+16dupT - THRB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.23-4T>C r.spl? p.? Unknown - likely benign g.24231829A>G - THRB(NM_000461.4):c.23-4T>C - THRB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52A>C r.(?) p.(Lys18Gln) Unknown - likely benign g.24231796T>G - THRB(NM_001354708.2):c.52A>C (p.K18Q) - THRB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95T>C r.(?) p.(Met32Thr) Unknown - VUS g.24231753A>G g.24190262A>G THRB(NM_001252634.2):c.95T>C (p.M32T) - THRB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164C>T r.(?) p.(Ser55Leu) Unknown - likely benign g.24231684G>A g.24190193G>A THRB(NM_001252634.1):c.164C>T (p.S55L) - THRB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.735C>T r.(?) p.(Phe245=) Unknown - benign g.24184995G>A g.24143504G>A THRB(NM_001252634.1):c.735C>T (p.F245=), THRB(NM_001252634.2):c.735C>T (p.F245=) - THRB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.735C>T r.(?) p.(Phe245=) Unknown - benign g.24184995G>A g.24143504G>A THRB(NM_001252634.1):c.735C>T (p.F245=), THRB(NM_001252634.2):c.735C>T (p.F245=) - THRB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1144+9G>A r.(=) p.(=) Unknown - benign g.24168981C>T g.24127490C>T THRB(NM_001252634.1):c.1144+9G>A, THRB(NM_001252634.2):c.1144+9G>A - THRB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1144+9G>A r.(=) p.(=) Unknown - benign g.24168981C>T g.24127490C>T THRB(NM_001252634.1):c.1144+9G>A, THRB(NM_001252634.2):c.1144+9G>A - THRB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1145-5C>T r.spl? p.? Unknown - benign g.24164621G>A g.24123130G>A THRB(NM_001252634.1):c.1145-5C>T - THRB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1148G>A r.(?) p.(Arg383His) Unknown - pathogenic g.24164613C>T - THRB(NM_001354708.2):c.1148G>A (p.R383H) - THRB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1251T>C r.(?) p.(Phe417=) Unknown - benign g.24164510A>G g.24123019A>G THRB(NM_001252634.2):c.1251T>C (p.F417=) - THRB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1286G>A r.(?) p.(Arg429Gln) Unknown - likely pathogenic g.24164475C>T g.24122984C>T THRB(NM_001252634.2):c.1286G>A (p.R429Q) - THRB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1295G>T r.(?) p.(Gly432Val) Unknown - likely pathogenic g.24164466C>A g.24122975C>A - - THRB_000004 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - Thyroid hormone resistance, generalized, autosomal dominant - - - - - - - - 0 - - 1 Gemeinschaftspraxis für Humangenetik Dresden
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