NM_024685.3:c.1736A>G

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HGVS Expressions

  • NG_016357.1:g.7194A>G
  • NM_024685.3:c.1736A>G
  • NP_078961.3:p.Lys579Arg
  • NC_000012.12:g.76346249T>C

Associated Genes

BBS10 Gene
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

141521925

Clinvar

35751

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.7.1Saudi Arabia2Likely PathogenicBardet-Biedl Syndrome 10Aldahmesh et al. 2014
615987.7.2Saudi Arabia2Likely PathogenicBardet-Biedl Syndrome 10Aldahmesh et al. 2014 Sibling of 615987.7.1
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Contributors

  • Pratibha Nair: 03.10.2022

Edit History

  • Pratibha Nair: 03.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.