KRT14 A94T - 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)

KRT14 A94T

(KRT14 Ala94Thr)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:44am by Genome Importing Robot.

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

  • T @ chr17:39742807: 44.0% (4735/10756) in EVS
  • T @ chr17:36996332: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 44.0% (4735/10756)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr17:39742807

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr17:39742807

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr17:39742807

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr17:39742807

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr17:39742807

 

Added in this revision:

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr17:39742807

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr17:39742807

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr17:39742807

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr17:39742807

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr17:39742807

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr17:36996333

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr17:36996333

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr17:36996333

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr17:36996333

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr17:36996333

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr17:36996333

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr17:36996333

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr17:36996333

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr17:36996333

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr17:36996333

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr17:36996333

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr17:36996333

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr17:36996333

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr17:36996333

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr17:36996333

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr17:36996333

 

GS19703 - var-GS19703-1100-36-ASM
hom T @ chr17:36996333

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr17:36996333

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr17:36996333

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr17:36996333

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr17:36996333

 

Other external references
 

    dbSNP
  • rs3826550
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the KRT14 gene
    Epidermolysis Bullosa Simplex
    Epidermolysis Bullosa Simplex, Dowling-Meara Type
    Epidermolysis Bullosa Simplex, Koebner Type
    Epidermolysis Bullosa Simplex, Weber-Cockayne Type
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT14
    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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