NM_017777.3:c.417+1G>A

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  2. NM_017777.3:c.417+1G>A

HGVS Expressions

  • NG_013032.1:g.8519G>A
  • NM_017777.3:c.417+1G>A

Associated Genes

MKS1 Gene
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Genomic Location

chr17:58216087

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

756368560

Clinvar

191084

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249000.1.1Saudi Arabia2PathogenicMeckel Syndrome, Type 1Al-Hamed et al. 2016 The patient had a similarly affected sib...
249000.1.2Saudi Arabia1Al-Hamed et al. 2016 Mother of 249000.1.1
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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.