NM_017777.4:c.-46_80del

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HGVS Expressions

  • NG_013032.1:g.5330_5455del
  • NM_017777.4:c.-46_80del
  • NC_000017.11:g.58219151_58219276del

Associated Genes

MKS1 Gene
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615990.1Saudi Arabia2NAUncertain SignificanceBardet-Biedl Syndrome 13Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 02.02.2022

Edit History

  • Asha Deepthi: 02.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.