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Table 2 Summary of DCHS1 Variants Detected in Patient

From: A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia

Chr Gene Positiona dbSNP ID SNP Residue change European population frequency (gnomAD database) Type Protein prediction CADDb Score
11p15.4 DCHS1 6,662,255 rs145099391 G > A p.P197L 8.89 × 10−4 Missense
Exon 2
22.30
11p15.4 DCHS1 6,646,574 rs753548138 G > A p.T2334 M 9.02 × 10−6 Missense
Exon 19
23.30
  1. aRefSeq NM_003737.3
  2. bCADD scores are derived from several different functional annotation tools. A score of 20 means that a variant is amongst the top 1% of deleterious variants in the human genome. The higher the score, the more likely that variant is predicted to be deleterious to the protein [33]