NM_000322.4:c.659G>A

HGVS Expressions

  • NG_009176.1:g.23087G>A
  • NM_000322.4:c.659G>A
  • NP_000313.2:p.Arg220Gln
  • NC_000006.12:g.42704534C>T

Associated Genes

Peripherin 2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

98699

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608133.1.1United Arab Emirates2Likely PathogenicRetinitis Pigmentosa 7 Khan et al. 2019
608133.2United Arab Emirates1Likely PathogenicRetinitis Pigmentosa 7 Khan et al. 2019 Father of 608133.2. Refused ERG
608133.3United Arab Emirates1Likely PathogenicRetinitis Pigmentosa 7 Khan et al. 2019 Mother of 608133.2. Refused ERG
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