NM_201253.3:c.3961T>G

HGVS Expressions

  • NG_008483.2:g.245787T>G
  • NM_201253.3:c.3961T>G
  • NP_957705.1:p.Cys1321Gly
  • NC_000001.11:g.197442248T>G
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

801602

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.6United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 12Khan. 2020
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