NM_017780.4:c.5689G>A

HGVS Expressions

  • NG_007009.1:g.178263G>A
  • NM_017780.4:c.5689G>A
  • NP_060250.2:p.Glu1897Lys
  • NC_000008.11:g.60852042G>A
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

Clinvar

699851

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614497.1.1United Arab Emirates1BenignAl-Shamsi et al. 2016
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