NM_176824.2:c.340A>G

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  2. NM_176824.2:c.340A>G

HGVS Expressions

  • NG_009111.1:g.13983A>G
  • NM_176824.2:c.340A>G
  • NP_789794.1:p.Met114Val
  • NC_000004.12:g.121861505T>C

Associated Genes

BBS7 Gene
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

142305911

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615985.1.1Arab1Uncertain SignificanceStoetzel et al. 2006 North African. Proband. Patient exhibite...
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Contributors

  • Sami Bizzari: 13.01.2021

Edit History

  • Rahila Mir: 22.02.2022
  • Sami Bizzari: 13.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.