NM_015311.3:c.951C>A

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HGVS Expressions

  • NG_016977.1:g.6265C>A
  • NM_015311.3:c.951C>A
  • NP_056126.1:p.Tyr317Ter
  • NC_000002.12:g.219570282G>T

Associated Genes

Obscurin-Like 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

780389591

Clinvar

191149

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612921.5Saudi Arabia2NALikely PathogenicThree M Syndrome 2Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 08.02.2022

Edit History

  • Asha Deepthi: 08.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.