NM_015631.6:c.1437G>C

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HGVS Expressions

  • NG_032953.1:g.16478G>C
  • NM_015631.6:c.1437G>C
  • NP_056446.4:p.Arg479Ser
  • NC_000010.11:g.95682666C>G

Associated Genes

Tectonic Family, Member 3
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608629.4.1United Arab EmiratesNANAUncertain SignificanceJoubert Syndrome 18Ben-Salem et al. 2014 Patient from 'JS_B' family in the public...
608629.4.2SyriaNANAUncertain SignificanceJoubert Syndrome 18Ben-Salem et al. 2014 Patient from 'JS_B' family in the public...
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Contributors

  • Asha Deepthi: 30.09.2022

Edit History

  • Asha Deepthi: 30.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.