NM_000088.4:c.1426G>A

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  2. NM_000088.4:c.1426G>A

HGVS Expressions

  • NG_007400.1:g.11884G>A
  • NM_000088.4:c.1426G>A
  • NP_000079.2:p.Gly476Arg
  • NC_000017.11:g.50194756C>T

Associated Genes

Collagen, Type I, Alpha-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

57377812

Clinvar

2579137

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
166210.1Saudi Arabia1Likely PathogenicOsteogenesis Imperfecta, Type IIMonies et al. 2017 Test sample from fetus of unknown sex.
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Contributors

  • Asha Deepthi: 10.10.2024

Edit History

  • Asha Deepthi: 10.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.