NM_000350.3:c.2570T>C

HGVS Expressions

  • NG_009073.1:g.71022T>C
  • NM_000350.3:c.2570T>C
  • NP_000341.2:p.Leu857Pro
  • NC_000001.11:g.94055128A>G
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

867186

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.10United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '22' in the publication
248200.G.2United Arab Emirates22Likely PathogenicStargardt Disease 1Khan. 2020 11 patients with childhood-onset form of...
248200.G.4United Arab Emirates2Likely PathogenicStargardt Disease 1Khan. 2020 2 related patients (siblings) with adult...
248200.G.6United Arab EmiratesNANALikely PathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 23' in the publi...
248200.G.8United Arab EmiratesNANALikely PathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 27' in the publi...
248200.G.10United Arab EmiratesNANALikely PathogenicStargardt Disease 1Méjécase et al. 2020 Patient(s) from 'family 31' in the publi...
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