NM_003839.4:c.1348C>T

HGVS Expressions

  • NG_008098.1:g.48951C>T
  • NM_003839.4:c.1348C>T
  • NP_003830.1:p.Arg450Trp
  • NC_000018.10:g.62369265C>T
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

781416

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.14Lebanon1Uncertain SignificanceUmar et al, 2020
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