NM_000329.3:c.963T>G

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  2. NM_000329.3:c.963T>G

HGVS Expressions

  • NG_008472.2:g.15983T>G
  • NM_000329.3:c.963T>G
  • NP_000320.1:p.Asn321Lys
  • NC_000001.11:g.68438977A>C

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

149916178

Clinvar

92860

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613794.G.2Saudi Arabia4+Likely PathogenicRetinitis Pigmentosa 20Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 07.08.2024

Edit History

  • Sayeeda Hana: 09.08.2024
  • Sayeeda Hana: 07.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.