NM_003906.5:c.2609T>C

HGVS Expressions

  • NG_033881.1:g.19903T>C
  • NM_003906.5:c.2609T>C
  • NP_003897.2:p.Leu870Ser
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Genomic Location

chr21:46270420

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

562054

Epidemiology in the Arab World

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