Individual #00000633

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 Indian
Population -
Remarks CHP31
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


AscendingScreening ID     

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Owner     
0000000700 DNA PCR;SEQ;SSCA TSHR 2 Nur Aisyah Athirah



Variants

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

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AscendingDNA change (genomic) (hg38)     

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14 Unknown +/. g.5310C>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_000007 rs2234919 - - Nur Aisyah Athirah TSHR 1 NM_000369.5:c.154C>A 253C>A, P52T r.(?) p.(Pro52Thr) - Benign
14 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 - - Nur Aisyah Athirah TSHR 10 NM_000369.5:c.1377G>A 1377G>A, A459A r.(=) p.(=) - Benign/Likely benign
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