NM_198428.3:c.263C>A

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HGVS Expressions

  • NG_009306.2:g.28608C>A
  • NM_198428.3:c.263C>A
  • NP_940820.1:p.Ser88Ter
  • NC_000007.14:g.33152851C>A

Associated Genes

Parathyroid Hormone-Responsive B1 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

749974697

Clinvar

191219

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615986.G.1Saudi Arabia4+PathogenicBardet-Biedl Syndrome 9Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 29.08.2024

Edit History

  • Sayeeda Hana: 29.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.