NM_153704.5:c.725A>G

HGVS Expressions

  • NG_009190.1:g.30760A>G
  • NM_153704.5:c.725A>G
  • NP_714915.3:p.Asn242Ser
  • NC_000008.11:g.93780603A>G

Associated Genes

Transmembrane Protein 67
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

216826

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610688.3.1United Arab Emirates2PathogenicJoubert Syndrome 6Hafeez et al. 2020 Patient has a similarly affected older s...
610688.3.2United Arab Emirates1Hafeez et al. 2020 Father of 610688.3.1
610688.3.3United Arab Emirates1Hafeez et al. 2020 Mother of 610688.3.1
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