NM_002615.7:c.-9+2dup

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  2. NM_002615.7:c.-9+2dup

HGVS Expressions

  • NG_028180.1:g.5151dup
  • NM_002615.7:c.-9+2dup
  • NC_000017.11:g.1762115dup

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

398122519

Clinvar

41893

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613982.G.2Saudi Arabia4NALikely PathogenicOsteogenesis Imperfecta, Type VIShaheen et al. 2012 Two patients from family 'OI_F6' in the ...
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Contributors

  • Asha Deepthi: 16.09.2022

Edit History

  • Asha Deepthi: 16.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.