NM_000180.4:c.2129C>T

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  2. NM_000180.4:c.2129C>T

HGVS Expressions

  • NG_009092.1:g.15449C>T
  • NM_000180.4:c.2129C>T
  • NP_000171.1:p.Ala710Val
  • NC_000017.11:g.8013118C>T

Associated Genes

Guanylate Cyclase 2D, Membrane
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

781725943

Clinvar

812327

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.7.1Jordan2Likely PathogenicLeber Congenital Amaurosis 1Froukh. 2017
204000.7.GJordan12Likely PathogenicLeber Congenital Amaurosis 1Froukh. 2017 6 affected siblings of 204000.7.1 No in...
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Contributors

  • Pratibha Nair: 13.09.2023

Edit History

  • Pratibha Nair: 13.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.