NM_198309.3:c.459G>A

HGVS Expressions

  • NG_008126.2:g.22044G>A
  • NM_198309.3:c.459G>A
  • NP_938051.1:p.Thr153=
  • NC_000014.9:g.88841196G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

2530

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615985.1.1Arab2Likely PathogenicBardet-Biedl Syndrome 8Stoetzel et al. 2006 North African. Proband. Patient exhibite...
615985.1.2Arab2Likely PathogenicBardet-Biedl Syndrome 8Stoetzel et al. 2006 Sister of patient 615985.1.1. She exhibi...
615985.1.3Arab2Likely PathogenicBardet-Biedl Syndrome 8Stoetzel et al. 2006 Sister of patient 615985.1.1.
615985.1.4Arab1Likely PathogenicStoetzel et al. 2006 Mother of patient 615985.1.1.
615985.1.5Arab1Likely PathogenicStoetzel et al. 2006 Father of patient 615985.1.1.
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