NM_058172.6:c.720del

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HGVS Expressions

  • NG_015987.1:g.44776del
  • NM_058172.6:c.720del
  • NP_477520.2:p.Ser240ArgfsTer20
  • NC_000004.12:g.80033548del

Associated Genes

Anthrax Toxin Receptor 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1732803804

Clinvar

982063

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
228600.11Saudi Arabia2NALikely PathogenicHyaline Fibromatosis SyndromeMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 24.10.2021

Edit History

  • Asha Deepthi: 24.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.