NM_001089.2:c.3169G>A

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HGVS Expressions

  • NG_011790.1:g.58944G>A
  • NM_001089.2:c.3169G>A
  • NP_001080.2:p.Val1057Met
  • NC_000016.10:g.2286803C>T

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 3
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

537267668

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619611.1United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020; Alsamri et al. 2021 Patient had trisomy 21
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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

  • Pratibha Nair: 15.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.