PTCHD3 L152P - 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:

PTCHD3 L152P

(PTCHD3 Leu152Pro)


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 @ chr10:27702725: 26.7% (2876/10758) in EVS
  • Frequency shown in summary reports: 26.7% (2876/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr10:27702725

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr10:27702725

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr10:27702725

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom G @ chr10:27702725

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr10:27702725

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr10:27702725

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr10:27702725

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr10:27702725

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr10:27702725

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr10:27702725

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr10:27702725

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr10:27742731

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr10:27742731

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr10:27742731

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr10:27742731

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr10:27742731

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr10:27742731

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr10:27742731

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr10:27742731

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr10:27742731

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr10:27742731

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr10:27742731

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr10:27742731

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr10:27742731

 

NA19240

 

Other external references
 

    dbSNP
  • rs6482626
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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