NM_003632.3:c.3361C>T

HGVS Expressions

  • NG_042091.1:g.18426C>T
  • NM_003632.3:c.3361C>T
  • NP_003623.1:p.Arg1121Ter
  • NC_000017.11:g.42696039C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1219168

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616286.1Lebanon2PathogenicLethal Congenital Contracture Syndrome 7Nair et al. 2018; Sabbagh et al, 2020
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