NM_016941.3:c.926G>A

HGVS Expressions

  • NG_008256.1:g.11368G>A
  • NM_016941.3:c.926G>A
  • NP_058637.1:p.Cys309Tyr

Associated Genes

Delta-Like 3
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Genomic Location

39505284G>A

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277300.2.1Palestine2Likely PathogenicSpondylocostal Dysostosis, Autosomal Recessive, 1Turnpenny et al, 2003; Sparrow et al, 2002 No details of the family were provided e...
277300.2.2Palestine1Likely PathogenicTurnpenny et al, 2003; Sparrow et al, 2002 Healthy mother of the proband
277300.2.3Palestine1Likely PathogenicTurnpenny et al, 2003; Sparrow et al, 2002 Healthy father of the proband
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