Full data view for gene TSHR

Information The variants shown are described using the NM_000369.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

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DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

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Ethnic origin     

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Remarks     

Microattribution     

Panel size     

Owner     
+/. 10 c.1377G>A 1377G>A, A459A r.(=) p.(=) Benign/Likely benign​ Unknown g.192911G>A - Maslinda Musa et al.(2007): https://www.researchgate.net/publication/267377847_Molecular_Analysis_of_the_Thyroid_Stimulating_Hormone_Receptor_Gene_in_Unrelated_Patients_with_Congenital_Hypothyroidism TSHR_000006 rs113951800 - - DNA PCR, SEQ, SSCA CH Maslinda Musa et al.(2007): https://www.researchgate.net/publication/267377847_Molecular_Analysis_of_the_Thyroid_Stimulating_Hormone_Receptor_Gene_in_Unrelated_Patients_with_Congenital_Hypothyroidism F Malaysia Indian - CHP26 - 1 Nur Aisyah Athirah
+/. 10 c.1377G>A 1377G>A, A459A r.(=) p.(=) Benign/Likely benign Unknown g.192911G>A - Maslinda Musa et al.(2007): https://www.researchgate.net/publication/267377847_Molecular_Analysis_of_the_Thyroid_Stimulating_Hormone_Receptor_Gene_in_Unrelated_Patients_with_Congenital_Hypothyroidism TSHR_000006 rs113951800 - - DNA PCR, SEQ, SSCA CH Maslinda Musa et al.(2007): https://www.researchgate.net/publication/267377847_Molecular_Analysis_of_the_Thyroid_Stimulating_Hormone_Receptor_Gene_in_Unrelated_Patients_with_Congenital_Hypothyroidism F Malaysia Indian - CHP31 - 1 Nur Aisyah Athirah
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