NM_000401.3:c.110C>T

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  2. NM_000401.3:c.110C>T

HGVS Expressions

  • NG_007560.1:g.17175C>T
  • NM_000401.3:c.110C>T
  • NP_000392.3:p.Ser37Leu

Associated Genes

Exostosin Glycosyltransferase 2
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Genomic Location

chr11:44107723

Clinvar Clinical Significance

Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

527624522

Clinvar

304572

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616682.1.1Syria2Likely PathogenicSeizures, Scoliosis, and Macrocephaly/Microcephaly SyndromeNair et al. 2018; El-Bazzal et al. 2019 Proband. Variant also described as NM_20...
616682.1.2Syria2Likely PathogenicSeizures, Scoliosis, and Macrocephaly/Microcephaly SyndromeEl-Bazzal et al. 2019 Sibling of 616682.1.1
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Contributors

  • Pratibha Nair: 23.04.2020

Edit History

  • Pratibha Nair: 28.05.2020
  • Pratibha Nair: 27.05.2020
  • Pratibha Nair: 23.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.