NM_207352.3:c.332T>C

HGVS Expressions

  • NG_007965.1:g.9488T>C
  • NM_207352.3:c.332T>C
  • NP_997235.3:p.Ile111Thr
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Genomic Location

chr4:186196007

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2188

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210370.2.1Lebanon2PathogenicBietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 F2:II- 3
210370.2.2Lebanon2PathogenicBietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 Sister of 210370.2.1 (F2:II-5)
210370.2.3Lebanon2PathogenicBietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 Sister of 210370.2.1 (F2:II-8)
210370.3.1Lebanon2PathogenicBietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 F3:IV-7
210370.3.2Lebanon2PathogenicBietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 Daughter of 210370.3.1 (F3:V-2)
210370.3.3Lebanon2PathogenicBietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 Son of 210370.3.1 (F3:V-3)
210370.3.4Lebanon2PathogenicBietti Crystalline Corneoretinal DystrophyHaddad et al., 2012 Daughter of 210370.3.1 (F3:V-8)
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