NM_017668.3:c.658C>T

HGVS Expressions

  • NG_021210.1:g.53012C>T
  • NM_017668.3:c.658C>T
  • NP_060138.1:p.Arg220Ter
  • NC_000016.10:g.15691278C>T
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

159015

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614019.2.1Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019
614019.2.2Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019 Relative of 614019.2.1
614019.2.3Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019 Relative of 614019.2.1
614019.3.1Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019
614019.3.2Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019 Relative of 614019.3.1
614019.3.3Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019 Relative of 614019.3.1
614019.4.1Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019
614019.4.2Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019 Relative of 614019.4.1
614019.5Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019
614019.6Saudi Arabia2PathogenicLissencephaly 4Shaheen et al. 2019
© CAGS 2024. All rights reserved.