DNAH14 R3670K - 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)

DNAH14 R3670K

(DNAH14 Arg3670Lys)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:53am 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

  • A @ chr1:225534348: 47.9% (1544/3222) in EVS
  • Frequency shown in summary reports: 47.9% (1544/3222)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr1:225534348

 

Added in this revision:

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
hom A @ chr1:225534348

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het A @ chr1:223600971

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr1:225534348

 

Other external references
 

    dbSNP
  • rs7535953
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in