NM_001134831.2:c.1051C>T

HGVS Expressions

  • NG_008643.2:g.45172C>T
  • NM_001134831.2:c.1051C>T
  • NP_001128303.1:p.Arg351Ter
  • NC_000006.12:g.135457594G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2010

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608629.1United Arab Emirates2PathogenicJoubert Syndrome 3Al-Shamsi et al. 2016
608629.2United Arab Emirates2NAPathogenicJoubert Syndrome 3Ben-Salem et al. 2014 Patient from 'JS_A' family in the public...
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