NM_001134831.2:c.1922T>A

HGVS Expressions

  • NG_008643.2:g.64277T>A
  • NM_001134831.2:c.1922T>A
  • NP_001128303.1:p.Ile641Asn
  • NC_000006.12:g.135438489A>T
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608629.3United Arab Emirates2NALikely PathogenicJoubert Syndrome 3Ben-Salem et al. 2014 Patient from 'MTI-1501' family in the pu...
608629.4.1United Arab Emirates1NALikely PathogenicJoubert Syndrome 3Ben-Salem et al. 2014 Patient from 'JS_B' family in the public...
608629.4.2Syria1NALikely PathogenicJoubert Syndrome 3Ben-Salem et al. 2014 Patient from 'JS_B' family in the public...
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