NM_007348.4:c.949C>T

HGVS Expressions

  • NG_029773.1:g.58429C>T
  • NM_007348.4:c.949C>T
  • NP_031374.2:p.Arg317Ter
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Genomic Location

chr1:161819672

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616517.G.1Saudi Arabia4Likely PathogenicAchromatopsia 7Patel et al, 2018 2 family members
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