NM_005912.3:c.485C>T

HGVS Expressions

  • NG_016441.1:g.5904C>T
  • NM_005912.3:c.485C>T
  • NP_005903.2:p.Thr162Ile
  • NC_000018.10:g.60371865G>A

Associated Genes

Melanocortin 4 Receptor
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Clinical Significance

Pathogenic,Uncertain Significance

Variant Type

Substitution

Clinvar

499550

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
618406.1United Arab Emirates2PathogenicBody Mass Index Quantitative Trait Locus 20Ben-Rebeh et al. 2012
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