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Table 3 Results of PCR followed by Sanger sequencing

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

Sample Gene/transcript Chromosome position (GRCH37) Variant Zygosity
Patient GHR
NM_001242399.2
Chr5:42.700.021 c.556C>T
p.R186C
het
Father GHR
NM_001242399.2
Chr5:42.700.021 c.556C>T
p.R186C
het
Mother GHR
NM_001242399.2
Chr5:42.700.021 c.556C>T
p.R186C
Normal homozygous
Patient AGBL1
NM_152336.2
Chr15:87.217.553 c.2969G>C
p.C990S
het
Father AGBL1
NM_152336.2
Chr15:87.217.553 c.2969G>C
p.C990S
Normal homozygous
Mother AGBL1
NM_152336.2
Chr15:87.217.553 c.2969G>C
p.C990S
het
Patient ACAN
NM_013227.3
Chr15:89.417.157 c.7418G>A
p.R2473Q
het
Father ACAN
NM_013227.3
Chr15:89.417.157 c.7418G>A
p.R2473Q
Normal homozygous
Mother ACAN
NM_013227.3
Chr15:89.417.157 c.7418G>A
p.R2473Q
Normal homozygous