NM_004870.3:c.310G>A

HGVS Expressions

  • NG_009204.1:g.8053G>A
  • NM_004870.3:c.310G>A
  • NP_004861.2:p.Gly104Ser
  • NC_000017.11:g.7586699G>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

495318

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609180.1.1Yemen2Likely PathogenicCongenital Disorder Of Glycosylation, Type IfBastaki et al. 2018
609180.1.2Yemen2Likely PathogenicCongenital Disorder Of Glycosylation, Type IfBastaki et al. 2018 Brother of 609180.1.1
609180.1.3Yemen1Bastaki et al. 2018 Father of 609180.1.1
609180.1.4Yemen1Bastaki et al. 2018 Mother of 609180.1.1
609180.2.1United Arab Emirates2Likely PathogenicCongenital Disorder Of Glycosylation, Type IfBastaki et al. 2018
609180.2.2United Arab Emirates1Bastaki et al. 2018 Father of 609180.2.1
609180.2.3United Arab Emirates1Bastaki et al. 2018 Mother of 609180.2.1
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