NM_002529.4:c.284del

HGVS Expressions

  • NG_007493.1:g.53676del
  • NM_002529.4:c.284del
  • NP_002520.2:p.Asn95ThrfsTer5
  • NC_000001.11:g.156864425del
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256800.4.1Kuwait2NAPathogenicInsensitivity to Pain, Congenital, with AnhidrosisMardy et al. 1999 Patient from 'family KI-103' in the publ...
256800.4.2Kuwait2NAPathogenicInsensitivity to Pain, Congenital, with AnhidrosisMardy et al. 1999 Sister of 256800.4.1
256800.4.GKuwait4NAMardy et al. 1999 Relatives of 256800.4.1 & 256800.4.2 (pa...
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