NM_003322.6:c.1495+1G>A

HGVS Expressions

  • NG_009077.1:g.17891G>A
  • NM_003322.6:c.1495+1G>A
  • NP_003313.3:p.?
  • NC_000006.12:g.35499980C>T

Associated Genes

Tubby-Like Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

99665

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600132.G.1Saudi Arabia4+PathogenicRetinitis Pigmentosa 14Patel et al. 2016 Family with unknown number of affected m...
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