NM_002615.7:c.696C>G

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HGVS Expressions

  • NG_028180.1:g.18146C>G
  • NM_002615.7:c.696C>G
  • NP_002606.3:p.Tyr232Ter
  • NC_000017.11:g.1775110C>G

Associated Genes

Serpin Peptidase Inhibitor, Clade F, Member 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

193302872

Clinvar

31851

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613982.1.1United Arab Emirates2PathogenicOsteogenesis Imperfecta, Type VIBecker et al. 2011
613982.1.2United Arab Emirates2PathogenicOsteogenesis Imperfecta, Type VIBecker et al. 2011 Brother of 613982.1.1
613982.1.G.1United Arab Emirates4Becker et al. 2011 Parents and 2 sisters of 613982.1.1
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Contributors

  • Sayeeda Hana: 24.10.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Sayeeda Hana: 24.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.