NM_058172.5:c.1142A>G

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  2. NM_058172.5:c.1142A>G

HGVS Expressions

  • NG_015987.1:g.94409A>G
  • NP_477520.2:p.Tyr381Cys

Associated Genes

Anthrax Toxin Receptor 2
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Genomic Location

chr4:79983915

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

137852901

Clinvar

2599

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228600.3.1Morocco2PathogenicHyaline Fibromatosis SyndromeHanks et al. 2003; Mancini et al, 1999
228600.3.2Morocco2PathogenicHyaline Fibromatosis SyndromeHanks et al. 2003; Mancini et al, 1999 Sibling of 228600.3.1
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Contributors

  • Pratibha Nair: 18.07.2019

Edit History

  • Pratibha Nair: 18.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.