NM_000369.5:c.202C>T

HGVS Expressions

  • NG_009206.1:g.111655C>T
  • NM_000369.5:c.202C>T
  • NP_000360.2:p.Pro68Ser
  • NC_000014.9:g.81062179C>T
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Clinvar Clinical Significance

Benign, Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

437071

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
275200.1United Arab Emirates2PathogenicHypothyroidism, Congenital, Nongoitrous, 1Nicholas et al. 2016 The patient had a cousin with congenital...
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