NM_001122955.3:c.969G>A

HGVS Expressions

  • NG_008461.1:g.23259G>A
  • NM_001122955.3:c.969G>A
  • NP_001116427.1:p.Trp323Cys
  • NC_000011.10:g.62691316C>T

Associated Genes

BSCL2 Gene
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
269700.10Oman2PathogenicLipodystrophy, Congenital Generalized, Type 2Heathcote et al. 2002
269700.11Oman2PathogenicLipodystrophy, Congenital Generalized, Type 2Heathcote et al. 2002
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