NM_000441.2:c.1790T>C

HGVS Expressions

  • NG_008489.1:g.45549T>C
  • NM_000441.2:c.1790T>C
  • NP_000432.1:p.Leu597Ser
  • NC_000007.14:g.107701183T>C
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Benign

Variant Type

Substitution

Clinvar

43525

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605646.GUnited Arab Emirates1BenignChouchen et al. 2021 Heterozygous variants in at least 22 ind...
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