NM_018249.6:c.412G>A

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  2. NM_018249.6:c.412G>A

HGVS Expressions

  • NG_008999.1:g.46024G>A
  • NM_018249.6:c.412G>A
  • NP_060719.4:p.Gly138Ser
  • NC_000009.12:g.120539136C>T

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

61756286

Clinvar

379320

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610329.1.1United Arab Emirates2Likely BenignAl-Shamsi et al. 2016
610329.1.2United Arab Emirates2Likely BenignAl-Shamsi et al. 2016 Sibling of 610329.1.1
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Contributors

  • Pratibha Nair: 06.07.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 06.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.