NM_002529.4:c.253C>A

HGVS Expressions

  • NG_007493.1:g.53645C>A
  • NM_002529.4:c.253C>A
  • NP_002520.2:p.Arg85Ser
  • NC_000001.11:g.156864394C>A
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

584593

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256800.3.1United Arab Emirates2NALikely BenignInsensitivity 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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