DNAH7 K825E - 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:

DNAH7 K825E

(DNAH7 Lys825Glu)


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

  • C @ chr2:196825402: 17.8% (1724/9706) in EVS
  • C @ chr2:196533646: 20.2% (25/124) in GET-Evidence
  • Frequency shown in summary reports: 17.8% (1724/9706)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr2:196825402

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr2:196825402

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr2:196825402

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr2:196825402

 

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr2:196825402

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr2:196825402

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr2:196533647

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr2:196533647

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr2:196533647

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr2:196533647

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr2:196533647

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr2:196533647

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr2:196533647

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr2:196533647

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr2:196533647

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr2:196533647

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr2:196533647

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr2:196533647

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr2:196533647

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr2:196533647

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr2:196533647

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr2:196533647

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr2:196533647

 

NA12878

 

Other external references
 

    dbSNP
  • rs6719500
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.208 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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