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Application of genomic bioinformatic tools in clinical psychiatry and counseling

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C>A and C>T variants.
C>A variantC>T variant
SETD1A (NM_014712.3): c.2209C>A (p.Gln737Lys)SETD1A (NM_014712.3): c.2209C>T (p.Gln737Ter)

SETD1A, SET domain-containing protein 1.

¹ NM_014712.3: transcript 014712.3. ² c.2209C>A: substitution of cytosine by adenine at nucleotide position 2209 of the DNA sequence. ³ p.Gln737Lys: substitution of glutamine by lysine at amino acid position 737. ⁴ c.2209C>T: substitution of cytosine by thymine at nucleotide position 2209 of the DNA sequence. ⁵ p.Gln737Ter: substitution of glutamine by a termination codon at amino acid position 737.

Source: Prepared by the authors.