NM_000329.3:c.394G>A

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  2. NM_000329.3:c.394G>A

HGVS Expressions

  • NG_008472.2:g.10328G>A
  • NM_000329.3:c.394G>A
  • NP_000320.1:p.Ala132Thr
  • NC_000001.11:g.68444632C>T

Associated Genes

Retinal Pigment Epithelium-Specific Protein, 65-kD
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

61752878

Clinvar

13119

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
120970.3Saudi Arabia2Likely PathogenicCone-Rod Dystrophy 2Patel et al. 2016
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Contributors

  • Sayeeda Hana: 05.08.2024

Edit History

  • Sayeeda Hana: 09.09.2024
  • Sayeeda Hana: 05.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.