NM_000180.4:c.2345T>A

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  2. NM_000180.4:c.2345T>A

HGVS Expressions

  • NG_009092.1:g.16292T>A
  • NM_000180.4:c.2345T>A
  • NP_000171.1:p.Leu782His
  • NC_000017.11:g.8013961T>A

Associated Genes

Guanylate Cyclase 2D, Membrane
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

8069344

Clinvar

255475

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.15.1Saudi Arabia2BenignLi et al. 2009
204000.15.2Saudi Arabia2BenignLi et al. 2009 Brother of 204000.15.1
204000.15.3Saudi Arabia2BenignLi et al. 2009 Brother of 204000.15.1
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Contributors

  • Sayeeda Hana: 24.10.2024

Edit History

  • Sayeeda Hana: 24.10.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.