NM_001101.3:c.217C>G

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HGVS Expressions

  • NG_007992.1:g.6295C>G
  • NM_001101.3:c.217C>G
  • NP_001092.1:p.His73Asp
  • NC_000007.14:g.5529307G>C

Associated Genes

Actin, Beta
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205585

Clinvar

191218

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
243310.2Arab1NALikely PathogenicBaraitser-Winter Syndrome 1Maddirevula et al. 2018 de novo mutation
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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.