NM_003118.4:c.57+1G>C

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  2. NM_003118.4:c.57+1G>C

HGVS Expressions

  • NG_042174.1:g.15924G>C
  • NM_003118.4:c.57+1G>C
  • NP_003109.1:p.?
  • NC_000005.10:g.151676131C>G

Associated Genes

Secreted Protein, Acidic, Cysteine-Rich
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

112382148

Clinvar

3064133

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616507.1.1Sudan2PathogenicOsteogenesis Imperfecta, Type XVIIAlazami et al, 2016
616507.1.2Sudan2PathogenicOsteogenesis Imperfecta, Type XVIIAlazami et al, 2016 Sister of 616507.1.1
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Contributors

  • Asha Deepthi: 24.07.2024

Edit History

  • Asha Deepthi: 24.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.