NM_203447.4:c.3220C>A

HGVS Expressions

  • NG_017007.1:g.189381C>A
  • NM_203447.4:c.3220C>A
  • NP_982272.2:p.His1074Asn
  • NC_000009.12:g.399245C>A
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

366969

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.2.1United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021
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