NM_016938.5:c.506G>A

HGVS Expressions

  • NG_012304.2:g.7713G>A
  • NM_016938.5:c.506G>A
  • NP_058634.4:p.Arg169His
  • NC_000011.10:g.65870222C>T
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

472828

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614437.1Saudi Arabia2NAUncertain SignificanceCutis Laxa, Autosomal Recessive, Type IBMaddirevula et al. 2018
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