NM_178857.6:c.5959C>T

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HGVS Expressions

  • NG_028035.1:g.51969C>T
  • NM_178857.6:c.5959C>T
  • NP_849188.4:p.Gln1987Ter
  • NC_000008.11:g.10608139G>A

Associated Genes

RP1-Like Protein 1
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Clinvar Clinical Significance

Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

200846354

Clinvar

425431

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618826.G.1Saudi Arabia4+Likely PathogenicRetinitis Pigmentosa 88Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 21.08.2024

Edit History

  • Sayeeda Hana: 21.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.