NM_201253.3:c.2234C>T

HGVS Expressions

  • NG_008483.2:g.231098C>T
  • NM_201253.3:c.2234C>T
  • NP_957705.1:p.Thr745Met
  • NC_000001.11:g.197427559C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely 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
600105.5United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 12Khan. 2020
613835.4United Arab Emirates2Likely PathogenicLeber Congenital Amaurosis 8Khan. 2020
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