NM_030582.4:c.3283C>T

HGVS Expressions

  • NG_011903.1:g.104249C>T
  • NM_030582.4:c.3283C>T
  • NP_085059.2:p.Arg1095Ter
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Genomic Location

chr21:45504431

Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

191317

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
267750.G.1Saudi Arabia4Likely PathogenicKnobloch Syndrome 1Patel et al, 2018 2 members of a family
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