NM_002180.2:c.958C>T

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  2. NM_002180.2:c.958C>T

HGVS Expressions

  • NG_007976.1:g.18931C>T
  • NM_002180.2:c.958C>T
  • NP_002171.2:p.Arg320Ter

Associated Genes

Immunoglobulin MU-Binding Protein 2
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Genomic Location

chr11: 68917781

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

773690764

Clinvar

374169

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604320.3Saudi Arabia2Likely PathogenicSpinal Muscular Atrophy, Distal, Autosomal Recessive, 1AlSaman and Tomoum, 2010 No parental testing
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Contributors

  • Sami Bizzari: 14.05.2020

Edit History

  • Sami Bizzari: 14.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.