NM_001854.3:c.4084C>T

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HGVS Expressions

  • NG_008033.1:g.201336C>T
  • NM_001854.3:c.4084C>T
  • NP_001845.3:p.Arg1362Ter
  • NC_000001.11:g.102912161G>A

Associated Genes

Collagen, Type XI, Alpha-1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

755987732

Clinvar

620141

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228520.2Oman2NALikely PathogenicFibrochondrogenesis 1Akawi et al. 2012 Patient II.1 from family 'FA' in the pub...
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Contributors

    Edit History

    • Pratibha Nair: 06.02.2023
    • Asha Deepthi: 09.03.2021
    • Asha Deepthi: 03.01.2019
    • Asha Deepthi: 17.12.2018
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    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.