NM_201253.2:c.1345C>T

HGVS Expressions

  • NG_008483.1:g.157896C>T
  • NM_201253.2:c.1345C>T
  • NP_957705.1:p.Gln449Ter
  • NC_000001.11:g.197421173C>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
6613835.3.1Lebanon2PathogenicLeber Congenital Amaurosis 8Yzer et al, 2006
6613835.3.2Lebanon1PathogenicYzer et al, 2006 Mother of 6613835.3.1
6613835.3.3Lebanon1PathogenicYzer et al, 2006 Father of 6613835.3.1
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