NM_001301834.1:c.1A>G

HGVS Expressions

  • NG_034262.1:g.5306A>G
  • NM_001301834.1:c.1A>G
  • NP_001288763.1:p.Met1?
  • NC_000012.12:g.6944122A>G
Back to search Result
Clinical Significance

Likely Pathogenic,Pathogenic

Variant Type

Substitution

Clinvar

41942

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
218340.1.1United Arab Emirates2PathogenicTemtamy SyndromeAkizu et al. 2013 Proband. Parents are first-cousins
218340.1.2United Arab Emirates2PathogenicTemtamy SyndromeAkizu et al. 2013 Sister of proband.
218340.1.3United Arab Emirates2PathogenicTemtamy SyndromeAkizu et al. 2013 Sister of proband.
218340.1.4United Arab Emirates1Temtamy SyndromeAkizu et al. 2013 Healthy mother of proband.
218340.1.5United Arab Emirates1Akizu et al. 2013 Healthy father of proband.
218340.2United Arab Emirates2PathogenicTemtamy SyndromeSaleh et al. 2021 Affected cousin
218340.2.1 Kuwait2PathogenicTemtamy SyndromeAkizu et al. 2013 Proband. Parents are first-cousins.
218340.2.2Kuwait2PathogenicTemtamy SyndromeAkizu et al. 2013 Sibling of proband.
218340.2.3Kuwait2PathogenicTemtamy SyndromeAkizu et al. 2013 Sibling of proband.
218340.2.5Kuwait1Akizu et al. 2013 Father of proband.
218340.3.1Libya2PathogenicTemtamy SyndromeAkizu et al. 2013 Proband.
218340.3.2Libya2PathogenicTemtamy SyndromeAkizu et al. 2013 Sibling of proband.
218340.3.3Libya1Akizu et al. 2013 Mother of proband.
218340.3.4Libya1Akizu et al. 2013 Father of proband.
218340.4.1Palestine2PathogenicTemtamy SyndromeAkizu et al. 2013 Proband.
218340.4.2Palestine2PathogenicTemtamy SyndromeAkizu et al. 2013 Sibling of proband.
218340.4.3Palestine1Akizu et al. 2013 Mother of proband.
218340.4.4Palestine1Akizu et al. 2013 Father of proband.
2180340.2.4Kuwait1Akizu et al. 2013 Mother of proband.
218340.G.1Saudi Arabia30PathogenicTemtamy SyndromeAlrakaf et al. 2018 Group of 15 Saudi Arabian patients. (12 ...
© CAGS 2021. All rights reserved.