NM_002529.4:c.850+1G>A

HGVS Expressions

  • NG_007493.1:g.61007G>A
  • NM_002529.4:c.850+1G>A
  • NC_000001.11:g.156871756G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1457786

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
256800.5.1Kuwait2NAPathogenicInsensitivity to Pain, Congenital, with AnhidrosisMardy et al. 1999 Patient from 'family KI-105' in the publ...
256800.5.2Kuwait2NAPathogenicInsensitivity to Pain, Congenital, with AnhidrosisMardy et al. 1999 Sister of 256800.5.1
256800.5.GKuwait3NAMardy et al. 1999 Relatives of 256800.5.1 & 256800.5.2 (pa...
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