PTCH1 T1195S - GET-Evidence

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

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PTCH1 T1195S

(PTCH1 Thr1195Ser)

Short summary

94 chromosomes studied, and found 4% het for this variant. Concluded that it is a benign polymorphism as of 9/2003.

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 @ chr9:98211572: 4.1% (436/10610) in EVS
  • A @ chr9:97251392: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (436/10610)



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr9:98211572




GS18502 - var-GS18502-1100-36-ASM
het A @ chr9:97251393


GS19020 - var-GS19020-1100-36-ASM
het A @ chr9:97251393


GS19239 - var-GS19239-1100-36-ASM
het A @ chr9:97251393


GS19701 - var-GS19701-1100-36-ASM
het A @ chr9:97251393


Other external references

  • rs2236405
  • GeneTests records for the PTCH1 gene
    Nevoid Basal Cell Carcinoma Syndrome
    PTCH1-Related Holoprosencephaly
  • Score: 0.063 (benign)
    Web search results (10 hits -- see all)
  • The Patched Receptor: Switching On/Off the Hedgehog Signaling ...
    PTCH1 and PTCH2 proteins are expressed differentially during the development of ... in PTCH1 result in protein truncation.24 The spectrum of human PTCH1 mutations ...
  • Molecular characterization of Italian Gorlin Syndrome patients
    p.T1195S. T: 0% 23. BCC2,BCC7,NB11,NB15,NB19,NB23. c.3944C>T. p.P1315L T: ... that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a ...
  • Type III 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... gruop(s) Added kinase family(s) Removed kinase gruop(s) Removed kinase family(s) ...
  • Type III 98%
    ... 10408779 PTCH1 Q13635 T1195S 1195 VAR_020440 CMGC (0.932) CDK (0.949) GSK (0.934) MAPK (0.972) CAMK (0.722) CAMKL (0.642) CAMK2 (0.829) Polymorphism ...
  • Journal of Dental Research
    T1195S. 23. 3944T>C. L1315P. Non-syndromic-cyst #2. 20/F. 14. 2199A>G. S733S ... Spectrum of PTCH1 mutations in French patients. with Gorlin syndrome. J Invest Dermatol ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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