NM_017777.4:c.515+12C>T

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HGVS Expressions

  • NG_013032.1:g.9877C>T
  • NM_017777.4:c.515+12C>T

Associated Genes

MKS1 Gene
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Genomic Location

chr17:58214729

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Benign, Likely Benign

Variant Type

Substitution

dbSNP

372527189

Clinvar

260885

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
209900.3.1Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F006-A" in the publication
249000.7Palestine2Likely BenignMeckel Syndrome, Type 1Khaddour et al. 2007
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Contributors

  • Sayeeda Hana: 16.09.2020

Edit History

  • Sayeeda Hana: 21.07.2022
  • Sayeeda Hana: 13.07.2022
  • Sayeeda Hana: 16.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.