HGVS Expressions

  • NG_007493.1:g.57354G>C
  • NM_002529.4:c.429-1G>C
  • NC_000001.11:g.156868103G>C
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance


Variant Type




Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256800.2United Arab Emirates2PathogenicInsensitivity to Pain, Congenital, with AnhidrosisSaleh et al. 2021 Affected cousins
256800.3.1United Arab Emirates2NAPathogenicInsensitivity to Pain, Congenital, with AnhidrosisMardy et al. 2001; Sztriha et al. 2001; Mardy et al. 1999 Patient from 'family KI-102' in Mardy et...
256800.3.2United Arab Emirates1NAMardy et al. 1999 Father of 256800.3.1
256800.3.3United Arab Emirates1NAMardy et al. 1999 Mother of 256800.3.1
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