Handsworth NM_000558.5:c.55G>C

HGVS Expressions

  • NG_059186.1:g.5121G>C
  • NM_000558.5:c.55G>C
  • NP_000549.1:p.Gly19Arg
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Genomic Location

chr16:176771

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

619845

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
141800.2Saudi Arabia1Uncertain SignificanceAl-Awamy et al. 1985
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