OPRM1 N40D - 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:

OPRM1 N40D

(OPRM1 Asn40Asp)


Short summary

Better clinical outcome with ethanol and naltrexone.

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • G @ chr6:154360797: 9.6% (957/10018) in EVS
  • G @ chr6:154402489: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 9.6% (957/10018)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom G @ chr6:154360797

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr6:154360797

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr6:154360797

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr6:154360797

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:154360797

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr6:154360797

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr6:154360797

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr6:154402490

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr6:154402490

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr6:154402490

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr6:154402490

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr6:154402490

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr6:154402490

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr6:154402490

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr6:154402490

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr6:154402490

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr6:154402490

 

Other external references
 

    dbSNP
  • rs1799971
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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