NM_201253.3:c.2498G>A

HGVS Expressions

  • NG_008483.2:g.231362G>A
  • NM_201253.3:c.2498G>A
  • NP_957705.1:p.Gly833Asp
  • NC_000001.11:g.197427823G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

812300

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.G.4IraqPathogenicRetinitis Pigmentosa 12Beryozkin et al. 2013 Group consisting of affected members fro...
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