NM_005272.5:c.481C>T

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  2. NM_005272.5:c.481C>T

HGVS Expressions

  • NG_009099.1:g.11667C>T
  • NM_005272.5:c.481C>T
  • NP_005263.1:p.Arg161Ter
  • NC_000001.11:g.109606417G>A

Associated Genes

Guanine Nucleotide-Binding Protein, Alpha-Transducing Activity Polypeptide 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

745308973

Clinvar

522772

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613856.1United Arab Emirates2Likely PathogenicAchromatopsia 4Khan. 2020
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Contributors

  • Asha Deepthi: 20.05.2021

Edit History

  • Asha Deepthi: 20.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.