NM_000082.3:c.275+1G>A

HGVS Expressions

  • NG_009289.1:g.28026G>A
  • NM_000082.3:c.275+1G>A
  • NP_000073.1:p.?
  • NC_000005.10:g.60922053C>T
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216400.4.1Sudan2PathogenicCockayne Syndrome, Type ALaugel et al, 2010
216400.4.2Sudan2PathogenicCockayne Syndrome, Type ALaugel et al, 2010 Cousin of 216400.4.1
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