HTR2C C23S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(HTR2C Cys23Ser)

Short summary


Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Affect protein function 0.00
GVGD: Class C65

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chrX:113965735: 23.3% (2041/8761) in EVS
  • C @ chrX:113871990: 30.4% (28/92) in GET-Evidence
  • Frequency shown in summary reports: 23.3% (2041/8761)


Oterino A, Castillo J, Pascual J, Cayon A, Alonso A, Ruiz-Alegria C, Valle N, Monton F, Ruiz-Lavilla N. Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine. J Headache Pain. 2007 Sep;8(4):231-5. Epub 2007 Sep 24. PubMed PMID: 17901921.


Ujike H, Nomura A, Morita Y, Morio A, Okahisa Y, Kotaka T, Kodama M, Ishihara T, Kuroda S. Multiple genetic factors in olanzapine-induced weight gain in schizophrenia patients: a cohort study. J Clin Psychiatry. 2008 Sep;69(9):1416-22. PubMed PMID: 19193342.



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chrX:113965735



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chrX:113965735



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chrX:113965735



hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chrX:113965735


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chrX:113965735


hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chrX:113965735



hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chrX:113965735


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chrX:113965735


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chrX:113965735


GS06985 - var-GS06985-1100-36-ASM
het C @ chrX:113871991


GS07357 - var-GS07357-1100-36-ASM
hom C @ chrX:113871991


GS12004 - var-GS12004-1100-36-ASM
het C @ chrX:113871991


GS18501 - var-GS18501-1100-36-ASM
hom C @ chrX:113871991


GS18504 - var-GS18504-1100-36-ASM
hom C @ chrX:113871991


GS18505 - var-GS18505-1100-36-ASM
het C @ chrX:113871991


GS18508 - var-GS18508-1100-36-ASM
het C @ chrX:113871991


GS18517 - var-GS18517-1100-36-ASM
het C @ chrX:113871991


GS19129 - var-GS19129-1100-36-ASM
hom C @ chrX:113871991


GS19239 - var-GS19239-1100-36-ASM
hom C @ chrX:113871991


GS19240 - var-GS19240-1100-36-ASM
het C @ chrX:113871991


GS19648 - var-GS19648-1100-36-ASM
hom C @ chrX:113871991


GS19649 - var-GS19649-1100-36-ASM
hom C @ chrX:113871991


GS19700 - var-GS19700-1100-36-ASM
hom C @ chrX:113871991


GS19701 - var-GS19701-1100-36-ASM
het C @ chrX:113871991


GS19703 - var-GS19703-1100-36-ASM
hom C @ chrX:113871991


GS19704 - var-GS19704-1100-36-ASM
het C @ chrX:113871991


Other external references

  • rs6318
  • [Weight gain]
    Ser in position 23 is associated with olanzapine-induced weight gain
  • Score: 0.004 (benign)

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

Log in