Skip to main content

Table 1 The result of the patient’s genetic evaluation

From: Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

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