NM_000180.4:c.416T>C

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HGVS Expressions

  • NG_009092.1:g.5794T>C
  • NM_000180.4:c.416T>C
  • NP_000171.1:p.Leu139Pro
  • NC_000017.11:g.8003463T>C

Associated Genes

Guanylate Cyclase 2D, Membrane
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205499

Clinvar

191069

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.8Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 1Patel et al. 2016
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Contributors

  • Sayeeda Hana: 21.07.2024

Edit History

  • Sayeeda Hana: 02.08.2024
  • Sayeeda Hana: 21.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.