NM_003895.3:c.709C>T

HGVS Expressions

  • NG_030017.1:g.37872C>T
  • NM_003895.3:c.709C>T
  • NP_003886.3:p.Gln237Ter
  • NC_000021.9:g.32695170G>A

Associated Genes

Synaptojanin 1
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Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
617389.1.1Oman; United Arab Emirate...2PathogenicDevelopmental and Epileptic Encephalopathy 53Al Zaabi et al. 2018 Emirati of Omani origin
617389.1.2Oman; United Arab Emirate...2PathogenicDevelopmental and Epileptic Encephalopathy 53Al Zaabi et al. 2018 Relative of 617389.1.1
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