NM_001256789.3:c.1870G>A

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HGVS Expressions

  • NG_009095.2:g.13599G>A
  • NM_001256789.3:c.1870G>A
  • NP_001243718.1:p.Val624Ile
  • NC_000023.11:g.49224768C>T

Associated Genes

Calcium Channel, Voltage-Dependent, Alpha-1F Subunit
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

141010716

Clinvar

259657

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300476.1Saudi Arabia2Likely PathogenicCone-Rod Dystrophy, X-Linked, 3Patel et al. 2016
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Contributors

  • Sayeeda Hana: 29.08.2024

Edit History

  • Sayeeda Hana: 29.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.