NM_017777.4:c.515+1G>A

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HGVS Expressions

  • NG_013032.1:g.9866G>A
  • NM_017777.4:c.515+1G>A

Associated Genes

MKS1 Gene
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Genomic Location

chr17:58214740

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Benign, Pathogenic

Variant Type

Substitution

dbSNP

201933838

Clinvar

56624

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209900.8.2Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 209900.8.1 "BBS-F021-B" in t...
249000.9Kuwait2PathogenicMeckel Syndrome, Type 1Frank et al. 2007 The patient had a similarly affected sib...
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Contributors

  • Sayeeda Hana: 16.09.2020

Edit History

  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 16.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.