NM_006052.2:c.178G>T

HGVS Expressions

  • NG_009410.1:g.32015G>T
  • NM_006052.2:c.178G>T
  • NP_006043.1:p.Glu60Ter
  • NC_000021.9:g.37240519C>A
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Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
605298.1.1United Arab Emirates2Likely PathogenicBeetz et al. 2020 Proband
605298.1.2United Arab Emirates2Likely PathogenicBeetz et al. 2020 Paternal cousin of 605298.1.1
605298.1.GUnited Arab Emirates5Beetz et al. 2020 5 unaffected relatives of 605298.1.1 and...
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