NM_000350.3:c.3610G>A

HGVS Expressions

  • NG_009073.1:g.88802G>A
  • NM_000350.3:c.3610G>A
  • NP_000341.2:p.Asp1204Asn
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Genomic Location

chr1:94037348

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

99234

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604116.G.1Syria4PathogenicCone-Rod Dystrophy 3Patel et al, 2018 2 members of a family
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