NM_001122955.3:c.509_513delATCGT

HGVS Expressions

  • NG_008461.1:g.19886_19890del
  • NM_001122955.3:c.509_513delATCGT
  • NP_001116427.1:p.Tyr170CysfsTer6
  • NC_000011.10:g.62694688_62694692del

Associated Genes

BSCL2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

4535

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