NM_198428.3:c.1432+47T>A

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HGVS Expressions

  • NG_009306.2:g.224974T>A
  • NM_198428.3:c.1432+47T>A
  • NC_000007.14:g.33349217T>A

Associated Genes

Parathyroid Hormone-Responsive B1 Gene
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

73101660

Clinvar

263118

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.4Saudi Arabia1Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F017-A" in the publication
615987.6.2Saudi Arabia1BenignStoetzel et al. 2006; Abu-Safieh et al. 2012 Sibling of 615987.6.1 "BBS-F029-B" in t...
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Contributors

  • Sayeeda Hana: 13.07.2022

Edit History

  • Sayeeda Hana: 01.08.2022
  • Sayeeda Hana: 21.07.2022
  • Sayeeda Hana: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.