NM_201253.3:c.2555T>C

HGVS Expressions

  • NG_008483.2:g.231419T>C
  • NM_201253.3:c.2555T>C
  • NP_957705.1:p.Ile852Thr
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Genomic Location

chr1:197427880

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

99883

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613835.6.1Syria2Likely PathogenicLeber Congenital Amaurosis 8Hasan et al. 2016
613835.6.2Syria2Likely PathogenicLeber Congenital Amaurosis 8Hasan et al. 2016 Sibling of 613835.6.1
613835.G.5PalestinePathogenicLeber Congenital Amaurosis 8Beryozkin et al. 2013 Group consisting of affected members fro...
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