NM_000932.4:c.2632G>T

HGVS Expressions

  • NM_000932.4:c.2632G>T
  • NP_000923.1:p.Ala878Ser
  • NC_000011.10:g.64264092G>T

Associated Genes

Phospholipase C, Beta-3
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Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
618961.1.1United Arab Emirates2Likely PathogenicSpondylometaphyseal Dysplasia With Corneal DystrophyBen-Salem et al. 2018
618961.1.2United Arab Emirates2Likely PathogenicSpondylometaphyseal Dysplasia With Corneal DystrophyBen-Salem et al. 2018 Cousin of 618961.1.1
618961.1.GUnited Arab Emirates8Ben-Salem et al. 2018 8 unaffected relatives of 618961.1.1 (pa...
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