HTR5A P15S - 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.

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Curation:
Currentness:

HTR5A P15S

(HTR5A Pro15Ser)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr7:154862652: 4.4% (470/10758) in EVS
  • T @ chr7:154493584: 3.2% (4/124) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (470/10758)

Publications
 

Iwata N, Ozaki N, Inada T, Goldman D. Association of a 5-HT(5A) receptor polymorphism, Pro15Ser, to schizophrenia. Mol Psychiatry. 2001 Mar;6(2):217-9. PubMed PMID: 11317225.

Case-control study in a Japanese population with 249 unrelated schizophrenic patients and 253 unrelated controls found an association of Pro15Ser to schizophrenia (P<0.0001).

Genomes
 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr7:154862652

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr7:154862652

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr7:154862652

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr7:154862652

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr7:154862652

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr7:154493585

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr7:154493585

 

Other external references
 

    dbSNP
  • rs11575874
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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