NM_198428.3:c.1546C>A

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HGVS Expressions

  • NG_009306.2:g.228624C>A
  • NM_198428.3:c.1546C>A
  • NP_940820.1:p.Pro516Thr
  • NC_000007.14:g.33352867C>A

Associated Genes

Parathyroid Hormone-Responsive B1 Gene
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

73688160

Clinvar

263119

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.5.1Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-arRP-F026-A" in the publication
615982.5.2Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5.1 "BBS-arRP-F026-B"...
615982.5.3Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5.1 "BBS-arRP-F026-C"...
615982.5.4Saudi Arabia1BenignAbu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5.1 "BBS-arRP-F026-D"...
615989.2.1United Arab Emirates1BenignAbu-Safieh et al. 2012 "BBS-F027-A" in the publication
615989.2.2United Arab Emirates1BenignAbu-Safieh et al. 2012 Sibling of 615989.2.1 "BBS-F027-B" in t...
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Contributors

  • Sayeeda Hana: 13.07.2022

Edit History

  • Sayeeda Hana: 25.07.2022
  • Sayeeda Hana: 13.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.