NM_153704.6:c.739C>G

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HGVS Expressions

  • NG_009190.1:g.30774C>G
  • NM_153704.6:c.739C>G
  • NP_714915.3:p.Gln247Glu
  • NC_000008.11:g.93780617C>G

Associated Genes

Transmembrane Protein 67
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205592

Clinvar

191229

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610688.2Saudi Arabia2NAPathogenicJoubert Syndrome 6Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 21.02.2022

Edit History

  • Asha Deepthi: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.