This case | Normal range | |
---|---|---|
SBP/DBP (mmHg) | 106/68 | 130/80 |
BMI (kg/m2) | 19.3 | 18.5-25 |
FPG (mg/dL) | 85 | 73-109 |
ALP (IU/L) | 695 | 106-322 |
Na (mmol/L) | 139 | 138-145 |
K (mmol/L) | 4.4 | 3.6-4.8 |
Ca (mg/dL) | 12.5 | 8.8-10.1 |
P (mg/dL) | 2.2 | 2.7-4.6 |
Mg (mg/dL) | 2.3 | 1.7-2.5 |
FECa (%) | 0.67 | <1.0 |
Intact-PTH (pg/mL) | 496 | 10-65 |
ACTH (pg/mL) | 52.1 | 7.2-63.3 |
F (μg/dL) | 12.1 | 6.24-18.0 |
TSH (μU/mL) | 1.17 | 0.45-3.33 |
FT3 (pg/mL) | 2.37 | 2.11-3.51 |
FT4 (ng/dL) | 1.09 | 0.84-1.44 |
GH (ng/mL) | 0.7 | <2.1 |
IGF-1 (ng/mL) | 188 | 133-312 |
PRL (ng/mL) | 11.3 | 3.12-15.39 |
LH (mIU/mL) | 7.6 | 0.5-68.7 |
FSH (mIU/mL) | 7.3 | 1.5-20.6 |
C-peptide (ng/mL) | 1.51 | 1.1-3.3 |
Insulin (μU/mL) | 7.9 | <16 |
Gastrin (pg/mL) | 95 | <200 |
Glucagon (pg/mL) | 208 | 70-174 |
Thyroglobulin (ng/mL) | 106 | <33.7 |
25-hydroxyvitamin D (ng/mL) | 9.9 | >20 |
Nucleotide change (amino acid change) | Source | PolyPhen2 (Score/prediction) | PROVEAN (Score/prediction) |
---|---|---|---|
c.293G>C (p.R98P) | This case | 0.995/probably damaging | -4.805/deleterious |
c.293G>A (p.R98Q) | ClinVar | 0.743/possibly damaging | -2.341/neutral |
c.293G>T (p.R98L) | Article (1) | 0.966/probably damaging | -4.889/deleterious |