NM_031889.2:c.2288G>A

HGVS Expressions

  • NG_013024.1:g.19971G>A
  • NM_031889.2:c.2288G>A
  • NP_114095.2:p.Arg763Gln
  • NC_000004.12:g.70643714G>A

Associated Genes

Enamelin
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

3796704

Clinvar

261985

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
104500.1Lebanon1BenignHart et al., 2003 Benign variants seen in family, but not ...
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