NM_001243.5:c.1511G>A

HGVS Expressions

  • NG_029573.2:g.80028G>A
  • NM_001243.5:c.1511G>A
  • NP_001234.3:p.Arg504Gln
  • NC_000001.11:g.12138404G>A
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

2230627

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.13Lebanon1Uncertain SignificanceUmar et al, 2020
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