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
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Genomic Location

chr11:44107723

Clinvar Clinical Significance

Likely Benign, Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

304572

Epidemiology in the Arab World

View Map
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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