NM_004750.5:c.527+5G>A

HGVS Expressions

  • NG_013370.1:g.13084G>A
  • NM_004750.5:c.527+5G>A
  • NP_004741.1:p.?
  • NC_000019.10:g.18598767C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5709

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272430.1.1United Arab Emirates2PathogenicCold-Induced Sweating Syndrome 1Dagoneau et al. 2007
272430.1.2United Arab Emirates1Dagoneau et al. 2007 Father of 272430.1.1
272430.1.3United Arab Emirates1Dagoneau et al. 2007 Mother of 272430.1.1
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