NM_001201543.2:c.685C>T

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HGVS Expressions

  • NG_028125.2:g.18741C>T
  • NM_001201543.2:c.685C>T
  • NP_001188472.1:p.Arg229Ter
  • NC_000002.12:g.61840319G>A

Associated Genes

Family With Sequence Similarity 161, Member A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

528466850

Clinvar

35

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606068.G.1Saudi Arabia4+PathogenicRetinitis Pigmentosa 28Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 25.07.2024

Edit History

  • Sayeeda Hana: 25.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.