NM_024685.4:c.32T>G

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  2. NM_024685.4:c.32T>G

HGVS Expressions

  • NG_016357.1:g.5116T>G
  • NM_024685.4:c.32T>G
  • NP_078961.3:p.Val11Gly
  • NC_000012.12:g.76348327A>C

Associated Genes

BBS10 Gene
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137852838

Clinvar

1332

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.1.01Lebanon1PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 He belongs to the same large consanguine...
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Contributors

  • Sayeeda Hana: 10.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 10.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.