NM_170784.3:c.116C>T

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  2. NM_170784.3:c.116C>T

HGVS Expressions

  • NG_009109.2:g.25820C>T
  • NM_170784.3:c.116C>T
  • NP_061336.1:p.Pro39Leu
  • NC_000020.11:g.10413399G>A

Associated Genes

MKKS Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1270369106

Clinvar

800851

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605231.3Saudi Arabia2PathogenicBardet-Biedl syndrome 6Abu-Safieh et al. 2012 "BBS-F022-A" in the publication
605231.5.1Saudi Arabia2Likely PathogenicBardet-Biedl syndrome 6Aldahmesh et al. 2014
605231.5.2Saudi Arabia2Likely PathogenicBardet-Biedl syndrome 6Aldahmesh et al. 2014 Sibling of 605231.5.1
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Contributors

  • Sayeeda Hana: 13.06.2022

Edit History

  • Pratibha Nair: 03.10.2022
  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 13.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.