NM_001844.5:c.1043G>A

HGVS Expressions

  • NG_008072.1:g.19717G>A
  • NM_001844.5:c.1043G>A
  • NP_001835.3:p.Gly348Asp
  • NC_000012.12:g.47989786C>T
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1347701

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
200610.1Saudi Arabia1NAPathogenicAchondrogenesis, Type IIMaddirevula et al. 2018 De novo mutation
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