NM_004333.6:c.1914T>G

HGVS Expressions

  • NG_007873.3:g.180400T>G
  • NM_004333.6:c.1914T>G
  • NP_004324.2:p.Asp638Glu
  • NC_000007.14:g.140749365A>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

162797

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
115150.1United Arab Emirates1PathogenicCardiofaciocutaneous Syndrome 1Al-Shamsi et al. 2016
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