Individual #00000623

Reference 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
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks CHP1
Microattribution -
Panel size 1
Diseases CH
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Stop! No phenotypes found for this individual!



Screenings


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Owner     
0000000690 DNA PCR;SEQ;SSCA TSHR 4 Nur Aisyah Athirah



Variants

4 entries on 1 page. Showing entries 1 - 4.
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AscendingDNA change (genomic) (hg38)     

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14 Unknown +/. g.141976C>T - 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_000001 - - - Nur Aisyah Athirah TSHR 5i NM_000369.5:c.468-31C>T IVS5-31C>T r.(=) p.(=) - -
14 Unknown +/. g.142097A>G - 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_000002 rs2241119 - - Nur Aisyah Athirah TSHR 6i NM_000369.5:c.545+13A>G IVS6+13A>G r.(=) p.(=) - Benign
14 Unknown +/. g.146130T>C - 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_000003 rs2075179 - - Nur Aisyah Athirah TSHR 7 NM_000369.5:c.561T>C N187N, 561T>C r.(=) p.(=) - Benign
14 Unknown +/. g.193715G>C - 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_000004 rs1991517 - - Nur Aisyah Athirah TSHR 10 NM_000369.5:c.2181G>C D727E, 2181C>G r.(?) p.(Glu727Asp) - Benign/Likely benign
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