NM_000171.4:c.1214G>A

HGVS Expressions

  • NG_011764.1:g.107028G>A
  • NM_000171.4:c.1214G>A
  • NP_000162.2:p.Arg405Gln
  • NC_000005.10:g.151822809C>T
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

352307

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
149400.1United Arab Emirates2Likely PathogenicHyperekplexia, Hereditary 1Al-Shamsi et al. 2016
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