NM_003611.3:c.1469A>G

HGVS Expressions

  • NG_008872.1:g.28005A>G
  • NM_003611.3:c.1469A>G
  • NP_003602.1:p.Glu490Gly
  • NC_000023.11:g.13757717A>G
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Clinvar Clinical Significance

Benign, Uncertain Significance

CTGA Clinical Significance

Benign

Variant Type

Substitution

Clinvar

211785

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.2.1United Arab Emirates1BenignAlsamri et al. 2020; Alsamri et al. 2021
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