VPS13C R153H - 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:

VPS13C R153H

(VPS13C Arg153His)


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 @ chr15:62316035: 3.3% (360/10752) in EVS
  • T @ chr15:60103326: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (360/10752)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr15:62316035

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr15:60103327

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr15:60103327

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr15:60103327

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr15:60103327

 

Other external references
 

    dbSNP
  • rs12595158
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.989 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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