NM_005633.3:c.1352C>A

HGVS Expressions

  • NG_007530.1:g.102388C>A
  • NM_005633.3:c.1352C>A
  • NP_005624.2:p.Thr451Lys
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Genomic Location

chr2:39023076

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

180531

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610733.1Lebanon1PathogenicNoonan Syndrome 4Nair et al. 2018
610733.2Lebanon1Likely PathogenicNoonan Syndrome 4Kruszka et al. 2017
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