Interested in working on the development of this resource? Apply here.

Gene: AASDHPPT


AASDHPPT
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Number of variants
(Including filtered: 290)
Number of CNVs
(Including filtered: )
OMIM
AASDHPPT
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 41.4 37 z = 0.42
Missense 110.1 91 z = 0.89
LoF 12.5 4 pLI = 0.08
CNV 4.4 2 z = 0.45

Gene summary

(canonical transcript: ENST00000278618)

Mean coverage


Loading variants...