NM_001378615.1:c.4583G>A

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HGVS Expressions

  • NG_013035.1:g.134750G>A
  • NM_001378615.1:c.4583G>A
  • NP_001365544.1:p.Arg1528His
  • NC_000004.12:g.15599615G>A

Associated Genes

Coiled-Coil And C2 Domains-Containing Protein 2A
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

886940102

Clinvar

597406

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612285.3United Arab Emirates1NALikely PathogenicJoubert Syndrome 9Ben-Salem et al. 2014 Patient from 'MTI-127' family in the pub...
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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.