NM_001975.3:c.710C>T

HGVS Expressions

  • NM_001975.3:c.710C>T
  • NP_001966.1:p.Thr237Met
  • NC_000012.12:g.6919608C>T

Associated Genes

Enolase 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
617983.1.1Iraq2Likely PathogenicReuter et al. 2017 Authors classified these gene variants a...
617983.1.2Iraq2Likely PathogenicReuter et al. 2017 Relative of 617983.1.1
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