Table 1 The result of the patient’s genetic evaluation
Gene transcript (RefSeq) | Variant location | Variant | Chromosome position (GRCH37) | Type | Zygosity |
|---|---|---|---|---|---|
GHR NM_001242399.2 | Exon 6 | c.556C>T p.R186C | Chr5:42.700.021 | Missense | het |
ACAN NM_013227.3 | Exon 17 | c.7418G>A p.R2473Q | Chr15:89.417.157 | Missense | het |
SRCAP NM_006662.2 | Exon 25 | c.4259C>T p.S1420F | Chr16:30.735.004 | Missense | het |
AGBL1 NM_152336.2 | Exon 22 | c.2969G>C p.C990S | Chr15:87.217.553 | Missense | het |