NM_001105.4:c.617G>A

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HGVS Expressions

  • NG_008004.1:g.105998G>A
  • NM_001105.4:c.617G>A
  • NP_001096.1:p.Arg206His
  • NC_000002.12:g.157774114C>T

Associated Genes

Activin A Receptor, Type I
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121912678

Clinvar

18309

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
135100.1Saudi Arabia1NAPathogenicFibrodysplasia Ossificans ProgressivaMaddirevula et al. 2018 de novo mutation
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Contributors

  • Asha Deepthi: 19.10.2021

Edit History

  • Asha Deepthi: 19.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.