NM_201253.2:c.2234C>T

HGVS Expressions

  • NG_008483.2:g.231098C>T
  • NM_201253.2:c.2234C>T
  • NP_957705.1:p.Thr745Met
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Genomic Location

chr1:197427559

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5733

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.1.4Lebanon1PathogenicRetinitis Pigmentosa 12Jalkh et al, 2014 Paternal uncle of 600105.1.1
600105.2.1Saudi Arabia2PathogenicRetinitis Pigmentosa 12Monies et al. 2017 Patient was found to have a dual diagnos...
613835.1.1Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Father of 600105.1.1
613835.1.2Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Paternal aunt of 600105.1.1
613835.1.3Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Paternal uncle of 600105.1.1
613835.1.4Lebanon1PathogenicLeber Congenital Amaurosis 8Jalkh et al, 2014 Paternal uncle of 600105.1.1
600105.G.3PalestinePathogenicRetinitis Pigmentosa 12Beryozkin et al. 2013 Group consisting of affected members fro...
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