NM_000583.3:c.1307C>A

HGVS Expressions

  • NG_012837.2:g.57915C>A
  • NM_000583.3:c.1307C>A
  • NP_000574.2:p.Thr436Lys
  • NC_000004.12:g.71752606G>T

Associated Genes

Group-Specific Component
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

4588

Clinvar

15986

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600807.G.2.1United Arab Emirates0.189BenignAl Mousa. 2019 33 moderate to severe asthmatics. rs7975...
600807.G.2.2United Arab Emirates0.158BenignAl Mousa. 2019 79 mild asthmatics
600807.G.2.3United Arab Emirates0.163BenignAl Mousa. 2019 164 healthy subjects
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