FLNB D1157N - 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:

(See the latest version)

FLNB D1157N

(FLNB Asp1157Asn)


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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

  • A @ chr3:58109162: 30.3% (3265/10758) in EVS
  • A @ chr3:58084201: 45.8% (55/120) in GET-Evidence
  • Frequency shown in summary reports: 30.3% (3265/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr3:58109162

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr3:58109162

 

 

 

 

 

 

 

 

 

 

 

 

Added in this revision:

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr3:58109162

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr3:58084202

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr3:58084202

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr3:58084202

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr3:58084202

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr3:58084202

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr3:58084202

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr3:58084202

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr3:58084202

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr3:58084202

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr3:58084202

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr3:58084202

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr3:58084202

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr3:58084202

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr3:58084202

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr3:58084202

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr3:58084202

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr3:58084202

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr3:58084202

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr3:58084202

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr3:58084202

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr3:58084202

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr3:58084202

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr3:58084202

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr3:58084202

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr3:58084202

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr3:58084202

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr3:58084202

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr3:58084202

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr3:58084202

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr3:58084202

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr3:58084202

 

Other external references
 

    dbSNP
  • rs1131356
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FLNB gene
    Atelosteogenesis Type I
    Atelosteogenesis Type III
    Boomerang Dysplasia
    FLNB-Related Disorders
    Larsen Syndrome
    Spondylocarpotarsal Synostosis Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLNB
    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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