NM_001267039.1:c.752del

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HGVS Expressions

  • NG_032779.1:g.15320del
  • NM_001267039.1:c.752del
  • NP_001253968.1:p.Ser251ThrfsTer8
  • NC_000004.12:g.112647283del

Associated Genes

La Ribonucleoprotein 7, Transcriptional Regulator
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

752648225

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615071.1United Arab Emirates2Likely PathogenicAlazami SyndromeSaleh et al. 2021
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Contributors

  • Pratibha Nair: 18.01.2022

Edit History

  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 18.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.