NM_000274.3:c.3G>A

HGVS Expressions

  • NG_008861.1:g.11782G>A
  • NM_000274.3:c.3G>A
  • NP_000265.1:p.Met1Ile
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Genomic Location

chr10:124412169

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

146

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258870.1.1Lebanon2PathogenicGyrate Atrophy of Choroid and RetinaMitchell et al. 1988
258870.1.2Lebanon2PathogenicGyrate Atrophy of Choroid and RetinaMitchell et al. 1988 Sibling of 258870.1.1
258870.2.1Lebanon2PathogenicGyrate Atrophy of Choroid and RetinaMitchell et al. 1988
258870.2.2Lebanon2PathogenicGyrate Atrophy of Choroid and RetinaMitchell et al. 1988 Sibling of 258870.2.1
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