NM_000142.5:c.1620C>A

HGVS Expressions

  • NG_012632.1:g.17333C>A
  • NM_000142.5:c.1620C>A
  • NP_000133.1:p.Asn540Lys
  • NC_000004.12:g.1805644C>A
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

16337

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
146000.2Saudi Arabia1NAPathogenicHypochondroplasiaMaddirevula et al. 2018 De novo mutation
146000.3.1Saudi Arabia1NAPathogenicHypochondroplasiaMaddirevula et al. 2018
146000.3.2Saudi Arabia1NAPathogenicHypochondroplasiaMaddirevula et al. 2018 Relative of 146000.3.1
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