NM_002180.2:c.2316C>T

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  2. NM_002180.2:c.2316C>T

HGVS Expressions

  • NG_007976.1:g.37946C>T
  • NM_002180.2:c.2316C>T
  • NP_002171.2:p.Ser772=
  • NC_000011.10:g.68936796C>T

Associated Genes

Immunoglobulin MU-Binding Protein 2
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

546382

Clinvar

258570

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600502.1.1Lebanon2BenignViollet et al. 2002 Patient exhibits distal spinal muscular ...
600502.1.GLebanon2BenignViollet et al. 2002 Two unaffected female relatives of 60005...
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Contributors

  • Sami Bizzari: 09.06.2021

Edit History

  • Sami Bizzari: 09.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.