NM_000329.3:c.95-3C>G

HGVS Expressions

  • NG_008472.2:g.8097C>G
  • NM_000329.3:c.95-3C>G
  • NP_000320.1:p.?
  • NC_000001.11:g.68446863G>C
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204100.5.1Yemen2Likely PathogenicLeber Congenital Amaurosis 2Jakobsson et al. 2014
204100.5.2Yemen2Likely PathogenicLeber Congenital Amaurosis 2Jakobsson et al. 2014 Brother of 205100.5.1
204100.5.3Yemen2Likely PathogenicLeber Congenital Amaurosis 2Jakobsson et al. 2014 Sister of 205100.5.1
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