NM_006329.3:c.901C>A

HGVS Expressions

  • NG_008254.1:g.71323C>A
  • NM_006329.3:c.901C>A
  • NP_006320.2:p.Leu301Met

Associated Genes

Fibulin 5
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Genomic Location

chr14:91881380

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

888450

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219100.2.1Lebanon1Likely PathogenicCutis Laxa, Autosomal Recessive, Type IA Mégarbané et al, 2009 Homozygous mutation in ELN. Phenotype mo...
219100.2.3Lebanon1Likely PathogenicMégarbané et al, 2009 Mother of 219100.2.1
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