DDD Research Variants Sequence Variant in CNOT2

Position:
12:70732581-70732582
VEP Consequence: frameshift_variant
Genotype: Heterozygous
Inheritance: De novo constitutive
Pathogenicity: Uncertain
Ref Allele: GC
Alt Allele: G
Gene: CNOT2
Phenotype Code
Abnormality of head or neck HP:0000152
Abnormality of the nervous system HP:0000707
Abnormality of the skeletal system HP:0000924
Growth abnormality HP:0001507

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