NM_198428.3:c.1111G>A

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HGVS Expressions

  • NG_009306.2:g.212292G>A
  • NM_198428.3:c.1111G>A
  • NP_940820.1:p.Val371Ile
  • NC_000007.14:g.33336535G>A

Associated Genes

Parathyroid Hormone-Responsive B1 Gene
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

1366355966

Clinvar

1490103

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605231.2.1Saudi Arabia1BenignAbu-Safieh et al. 2012 "BBS-F019-A" in the publication
605231.2.2Saudi Arabia1BenignAbu-Safieh et al. 2012 Sibling of 605231.2.1 "BBS-F019-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.