FLG Y2119H - 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!


FLG Y2119H

(FLG Tyr2119His)

You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr1:152281007: 20.2% (2169/10758) in EVS
  • GG @ chr1:150547630: 4.9% (5/102) in GET-Evidence
  • Frequency shown in summary reports: 20.2% (2169/10758)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het GG @ chr1:152281007


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het GG @ chr1:152281007


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het GG @ chr1:152281007


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het GG @ chr1:152281007


hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het GG @ chr1:152281007



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het GG @ chr1:152281007


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GG @ chr1:152281007


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het GG @ chr1:152281007


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het GG @ chr1:152281007


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GG @ chr1:152281007



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het GG @ chr1:152281007


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het GG @ chr1:152281007


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het GG @ chr1:152281007


Added in this revision:

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het GG @ chr1:152281007


GS10851 - var-GS10851-1100-36-ASM
het GG @ chr1:150547631


GS18558 - var-GS18558-1100-36-ASM
het GG @ chr1:150547631


GS19017 - var-GS19017-1100-36-ASM
het GG @ chr1:150547631




Other external references

  • rs7512553
  • 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
    Web search results (2 hits -- see all)

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in