This assay detects the hemoglobin Constant Spring (CS) mutation located in the HBA2 gene on chromosome 16 at position p13.3.[NCBI ClinVar ID: 15624]
status
ACTIVE
Fully-Specified Name
component
HBA2 gene.c.427T>C
property
PrThr = Present or threshold: The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold.
time
Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
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