NM_002180.2:c.638A>G

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  2. NM_002180.2:c.638A>G

HGVS Expressions

  • NG_007976.1:g.12680A>G
  • NM_002180.2:c.638A>G
  • NP_002171.2:p.His213Arg

Associated Genes

Immunoglobulin MU-Binding Protein 2
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Genomic Location

chr11:68911530

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137852666

Clinvar

9113

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604320.1Lebanon2PathogenicSpinal Muscular Atrophy, Distal, Autosomal Recessive, 1Grohmann et al. 2003; Grohmann et al. 1999 Four siblings died of respiratory failur...
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Contributors

  • Pratibha Nair: 05.04.2020

Edit History

  • Pratibha Nair: 05.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.