NM_080605.4:c.618C>G

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  2. NM_080605.4:c.618C>G

HGVS Expressions

  • NG_033265.1:g.5648C>G
  • NM_080605.4:c.618C>G
  • NP_542172.2:p.Cys206Trp
  • NC_000001.11:g.1232896C>G

Associated Genes

Beta-1,3-Galactosyltransferase 6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

763080896

Clinvar

869985

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609465.1.1Palestine2PathogenicAl-Gazali SyndromeAl-Gazali et al. 1999; Ben-Mahmoud et al. 2018 Similarly affected double first-cousin r...
609465.1.2Palestine2PathogenicAl-Gazali SyndromeAl-Gazali et al. 1999; Ben-Mahmoud et al. 2018 Sibling of 609465.1.1
609465.1.3Palestine1PathogenicBen-Mahmoud et al. 2018 Father of 609465.1.1
609465.1.4Palestine1PathogenicBen-Mahmoud et al. 2018 Mother of 609465.1.1
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Contributors

  • Pratibha Nair: 04.08.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 04.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.