NM_000316.3:c.109C>A

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  2. NM_000316.3:c.109C>A

HGVS Expressions

  • NG_008864.1:g.21195C>A
  • NM_000316.3:c.109C>A
  • NP_000307.1:p.Gln37Lys
  • NC_000003.12:g.46893940C>A

Associated Genes

Parathyroid Hormone 1 Receptor
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

794727622

Clinvar

197132

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
215045.1Saudi Arabia2NAUncertain SignificanceChondrodysplasia, Blomstrand TypeMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 11.02.2022

Edit History

  • Asha Deepthi: 11.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.