NM_001145320.1:c.338G>T

HGVS Expressions

  • NG_009931.1:g.12636G>T
  • NM_001145320.1:c.338G>T
  • NP_001138792.1:p.Arg113Leu
  • NC_000009.12:g.133539799G>T

Associated Genes

ADAMTS-Like Protein 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231050.5.1Saudi Arabia2NALikely PathogenicGeleophysic Dysplasia 1Maddirevula et al. 2018 Novel variant
231050.5.2Saudi Arabia2NALikely PathogenicGeleophysic Dysplasia 1Maddirevula et al. 2018 Brother of 231050.5.1
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