NM_015272.5:c.1582-1G>C

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HGVS Expressions

  • NG_008991.2:g.52270G>C
  • NM_015272.5:c.1582-1G>C
  • NP_056087.2:p.?
  • NC_000016.10:g.53656590C>G

Associated Genes

RPGRIP1-Like
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

750917538

Clinvar

1481429

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619113.1United Arab Emirates2Likely PathogenicCoach Syndrome 3Alabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 27.06.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 27.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.