NM_004273.5:c.988C>T

HGVS Expressions

  • NG_012635.1:g.48658C>T
  • NM_004273.5:c.988C>T
  • NP_004264.2:p.Gln330Ter
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Genomic Location

chr10:72008019

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

6051

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.22Lebanon2PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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