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Gene: SPTSSB


SPTSSB
serine palmitoyltransferase, small subunit B
Number of variants
(Including filtered: 56)
Number of CNVs
(Including filtered: )
OMIM
SPTSSB
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 7.0 6 z = 0.23
Missense 24.6 29 z = -0.44
LoF 2.7 3 pLI = 0.01
CNV 3.0 0 z = 0.70

Gene summary

(canonical transcript: ENST00000359175)

Mean coverage


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