NM_000208.4:c.421C>T

HGVS Expressions

  • NG_008852.2:g.31425C>T
  • NM_000208.4:c.421C>T
  • NP_000199.2:p.Arg141Trp
  • NC_000019.10:g.7267576G>A

Associated Genes

Insulin Receptor
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

439835

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
262190.1.1United Arab Emirates2Likely PathogenicPineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic AbnormalitiesBastaki et al. 2016
262190.1.2United Arab Emirates1PathogenicBastaki et al. 2016 Father of 262190.1.1
262190.1.3United Arab Emirates1PathogenicBastaki et al. 2016 Mother of 262190.1.1
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