NM_017777.4:c.367C>T

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HGVS Expressions

  • NG_013032.1:g.8468C>T
  • NM_017777.4:c.367C>T
  • NP_060247.2:p.Arg123Ter
  • NC_000017.11:g.58216138G>A

Associated Genes

MKS1 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

762482919

Clinvar

917949

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249000.11Saudi Arabia2NAPathogenicMeckel Syndrome, Type 1Maddirevula 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.