TRPC6 P15S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(TRPC6 Pro15Ser)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs3802829
    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 ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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