NM_015272.5:c.1649A>G

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HGVS Expressions

  • NG_008991.2:g.52338A>G
  • NM_015272.5:c.1649A>G
  • NP_056087.2:p.Gln550Arg
  • NC_000016.10:g.53656522T>C

Associated Genes

RPGRIP1-Like
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

772900011

Clinvar

942932

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611560.1Saudi Arabia2Likely PathogenicJoubert Syndrome 7Alazami et al. 2012 Has 2 other similarly affected siblings
611560.G.1Saudi Arabia6NALikely PathogenicJoubert Syndrome 7Maddirevula et al. 2018 Three related patients
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Contributors

  • Asha Deepthi: 14.02.2022

Edit History

  • Pratibha Nair: 19.10.2023
  • Asha Deepthi: 14.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.