NM_004062.4:c.950C>T

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  2. NM_004062.4:c.950C>T

HGVS Expressions

  • NM_004062.4:c.950C>T
  • NP_004053.1:p.Ala317Val
  • NC_000016.10:g.66913235G>A

Associated Genes

Cadherin 16
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

377681344

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.9Saudi Arabia8Likely PathogenicRetinitis PigmentosaPatel et al. 2016 Group of 4 family members
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Contributors

  • Sayeeda Hana: 31.08.2024

Edit History

  • Sayeeda Hana: 31.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.