FLG R1360H - 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)

FLG R1360H

(FLG Arg1360His)


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Short summary

 

Variant evidence
Computational 2

PolyPhen2: Unknown
SIFT: Tolerated 0.28
GVGD: GV 242.52; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.35);
PolyPhen=benign(0.142);
Condel=neutral(0.277)
Mutation Tasting Prediction: Polymorphism, P value: 0.999898; protein features (might be) affected (aa 260-3955 COMPBIAS Ser-rich gets lost; aa 1347-1401 REPEAT Filaggrin 8 gets lost)

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 @ chr1:152283283: 10.7% (1151/10754) in EVS
  • T @ chr1:150549906: 16.4% (19/116) in GET-Evidence
  • Frequency shown in summary reports: 10.7% (1151/10754)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr1:152283283

 

 

 

Added in this revision:

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr1:152283283

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:152283283

 

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:150549907

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:150549907

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr1:150549907

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr1:150549907

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr1:150549907

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:150549907

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr1:150549907

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr1:150549907

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr1:150549907

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr1:150549907

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr1:150549907

 

Other external references
 

    dbSNP
  • rs11586631
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the FLG gene
    FGFR-Related Craniosynostosis
    Kallmann Syndrome
    FGFR1-Related Craniosynostosis
    Kallmann Syndrome 2
    Osteoglophonic Dysplasia
    Pfeiffer Syndrome Type 1, 2 and 3
    Ichthyosis Vulgaris
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FLG
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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