NM_004273.5:c.718A>T

HGVS Expressions

  • NG_012635.1:g.48388A>T
  • NM_004273.5:c.718A>T
  • NP_004264.2:p.Lys240Ter
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Genomic Location

chr10:72007749

Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
143095.3.14Lebanon2Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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