TRPC6 P15S - 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.

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Curation:
Currentness:

TRPC6 P15S

(TRPC6 Pro15Ser)


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 @ chr11:101454192: 6.1% (595/9728) in EVS
  • A @ chr11:100959401: 6.9% (8/116) in GET-Evidence
  • Frequency shown in summary reports: 6.1% (595/9728)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr11:101454192

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr11:101454192

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr11:100959402

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr11:100959402

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr11:100959402

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr11:100959402

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr11:100959402

 

Other external references
 

    dbSNP
  • rs3802829
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • PLoS ONE: A Novel TRPC6 Mutation That Causes Childhood FSGS
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... TRPC6, encoding a member of the transient receptor potential (TRP) superfamily of ion ...
    plosone.org/article/info:doi/10.1371/journal.pone.0007771
  • Free Communications
    The aim of this study is to determine the spectrum of NPHS2 and TRPC6 ... T (P15S) and c.1211C>T (A411V) in heterozygous state, with a. prevalence of 31% (10/32) ...
    ndt.oxfordjournals.org/cgi/reprint/22/suppl_6/vi3.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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