NM_017777.4:c.1273+11G>A

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HGVS Expressions

  • NG_013032.1:g.16723G>A
  • NM_017777.4:c.1273+11G>A

Associated Genes

MKS1 Gene
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Genomic Location

chr17:58207883

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

16942826

Clinvar

260880

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249000.8Morocco2Likely BenignMeckel Syndrome, Type 1Khaddour et al. 2007
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Contributors

  • Sayeeda Hana: 16.09.2020

Edit History

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