NM_133433.4:c.5464G>C

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HGVS Expressions

  • NG_006987.1:g.150398G>C
  • NM_133433.4:c.5464G>C
  • NP_597677.2:p.Asp1822His
  • NC_000005.10:g.37022280G>C

Associated Genes

Nipped-B-Like
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587783976

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
122470.1Saudi Arabia1NALikely PathogenicCornelia de Lange Syndrome 1Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 07.02.2022

Edit History

  • Asha Deepthi: 07.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.