FBN2 M2311V - 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!

Curation:
Currentness:

FBN2 M2311V

(FBN2 Met2311Val)


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 @ chr5:127622491: 10.1% (1087/10758) in EVS
  • C @ chr5:127650389: 18.8% (24/128) in GET-Evidence
  • Frequency shown in summary reports: 10.1% (1087/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr5:127622491

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr5:127622491

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr5:127622491

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr5:127622491

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr5:127622491

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr5:127622491

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr5:127622491

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr5:127650390

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr5:127650390

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr5:127650390

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr5:127650390

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr5:127650390

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr5:127650390

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr5:127650390

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr5:127650390

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr5:127650390

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr5:127650390

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr5:127650390

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr5:127650390

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr5:127650390

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr5:127650390

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr5:127650390

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr5:127650390

 

Other external references
 

    dbSNP
  • rs32209
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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