NM_000089.4:c.292C>T

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HGVS Expressions

  • NG_007405.1:g.15008C>T
  • NM_000089.4:c.292C>T
  • NP_000080.2:p.Pro98Ser
  • NC_000007.14:g.94404568C>T

Associated Genes

Collagen, Type I, Alpha-2
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

765868569

Clinvar

580339

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
120160.1Saudi Arabia1Uncertain SignificanceMonies et al. 2017
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Contributors

  • Asha Deepthi: 09.11.2024

Edit History

  • Asha Deepthi: 09.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.