NM_025114.4:c.1860_1863del

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HGVS Expressions

  • NG_008417.1:g.32066AAGA[1]
  • NM_025114.4:c.1860_1863del
  • NP_079390.3:p.Arg621IlefsTer2
  • NC_000012.12:g.88115145CTTT[1]

Associated Genes

Centrosomal Protein 290
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

766608755

Clinvar

194988

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611134.2United Arab Emirates2NAPathogenicMeckel Syndrome, Type 4Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 31.10.2021

Edit History

  • Asha Deepthi: 31.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.