CYP1B1 R48G - GET-Evidence

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

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Curation:
Currentness:

CYP1B1 R48G

(CYP1B1 Arg48Gly)


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

  • C @ chr2:38302390: 34.9% (3724/10658) in EVS
  • C @ chr2:38155893: 31.2% (30/96) in GET-Evidence
  • Frequency shown in summary reports: 34.9% (3724/10658)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr2:38302390

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr2:38302390

 

 

 

 

 

 

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr2:38155894

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr2:38155894

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr2:38155894

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr2:38155894

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr2:38155894

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr2:38155894

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr2:38155894

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr2:38155894

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr2:38155894

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr2:38155894

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr2:38155894

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr2:38155894

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr2:38155894

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr2:38155894

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr2:38155894

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr2:38155894

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr2:38155894

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr2:38155894

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr2:38155894

 

NA12878

 

Other external references
 

    dbSNP
  • rs10012
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (189 hits -- see all)
  • Globally, CYP1B1 mutations in primary congenital glaucoma are ...
    METHODS: Five intragenic single-nucleotide polymorphisms in CYP1B1-R48G, A119S, V432L, D449D, and N453S-were used to generate haplotype data from ...
    www.ncbi.nlm.nih.gov/pubmed/16384942
  • BioMed Central | Full text | Multilocus analysis of SNP and ...
    One SNP in CYP19, 3UTR, two SNPs in CYP1B1 (R48G and A119S) and one in CYP1A1 (T461N) were significantly ... of COMT, CYP1A1m1, CYP1B1 codon 48, and CYP1B1 codon 432 was found ...
    www.biomedcentral.com/1471-2164/7/5
  • CYP1B1
    R48G; A119S. Stoilov et al, 1998. McLellan et al, 2000. CYP1B1*3. CYP1B1. ... R48G; A119S; L432V; A443G. Aklillu et al, 2002. CYP1B1*8. CYP1B1*9. CYP1B1*10. CYP1B1*11 ...
    www.cypalleles.ki.se/cyp1b1.htm
  • Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are ...
    Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are ... Five intragenic single-nucleotide polymorphisms in CYP1B1R48G, A119S, V432L, D449D, and N453S—were used to ...
    www.iovs.org/cgi/content/full/47/1/43
  • Multilocus analysis of SNP and metabolic data within a given ...
    One SNP in CYP19, 3UTR, two SNPs in CYP1B1 (R48G and A119S) and one in CYP1A1 (T461N) were significantly ... reside either in the same gene (CYP1B1) or in 3 different genes in ...
    www.ncbi.nlm.nih.gov/pubmed/16412218
  • [A novel mutation of CYP1B1 gene in primary congenital ...
    Huang JF, Zhou J, Wang H, Chen D, Zeng LP, Tong JB, Xia XB, Hu ZM ABSTRACT: OBJECTIVE: To investigate the distribution of the CYP1B1 (Cytochrome P450, family 1, ...
    labmeeting.com/paper/29556979/huang-2009-a-novel-mutation-of-cyp1b1...
  • BMC Genomics
    One SNP in CYP19, 3UTR, two SNPs in CYP1B1 (R48G and A119S) and one in CYP1A1 (T461N) were significantly ... reside either in the same gene (CYP1B1) or in 3 different genes ...
    www.biomedcentral.com/content/pdf/1471-2164-7-5.pdf
  • CYP1B1 variants are associated with prostate cancer in non ...
    CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians. ... A, -13C/T, and 142C/G(R48G) were associated with the disease status: ...
    www.ashg.org/genetics/ashg07s/f10743.htm

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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