NM_003995.3:c.2869C>T

HGVS Expressions

  • NG_009249.1:g.21257C>T
  • NM_003995.3:c.2869C>T
  • NP_003986.2:p.Arg957Cys
  • NC_000009.12:g.35808665C>T
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Benign, Likely Pathogenic

Variant Type

Substitution

Clinvar

1513451

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602875.1.1Oman2Likely PathogenicAcromesomelic Dysplasia, Maroteaux TypeBartels et al. 2004 passed away at a few months of age.
602875.1.2Oman2Likely PathogenicAcromesomelic Dysplasia, Maroteaux TypeBartels et al. 2004 sibling of 602875.1.1
602875.1.3Oman2Likely PathogenicAcromesomelic Dysplasia, Maroteaux TypeBartels et al. 2004 sibling of 602875.1.1
602875.1.4Oman1BenignBartels et al. 2004 mother of 602875.1.1
602875.1.5Oman1BenignBartels et al. 2004 Father of 602875.1.1
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