HAUS5 Q580R - 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:

HAUS5 Q580R

(HAUS5 Gln580Arg)


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

  • G @ chr19:36113590: 2.1% (208/9940) in EVS
  • G @ chr19:40805429: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (208/9940)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr19:36113590

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr19:36113590

 

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr19:36113590

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr19:40805430

 

Other external references
 

    dbSNP
  • rs61747965
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.99 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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