NM_000329.3:c.993G>A

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  2. NM_000329.3:c.993G>A

HGVS Expressions

  • NG_008472.2:g.16013G>A
  • NM_000329.3:c.993G>A
  • NP_000320.1:p.Trp331Ter
  • NC_000001.11:g.68438947C>T

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1645879569

Clinvar

973960

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.2United Arab Emirates2NALikely PathogenicLeber Congenital Amaurosis 2Khan. 2020
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Contributors

  • Asha Deepthi: 01.06.2021

Edit History

  • Pratibha Nair: 05.01.2023
  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 01.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.