PTPRH L543F - 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:

PTPRH L543F

(PTPRH Leu543Phe)


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 @ chr19:55710074: 12.2% (1310/10758) in EVS
  • A @ chr19:60401885: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 12.2% (1310/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr19:55710074

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr19:55710074

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr19:55710074

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr19:55710074

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr19:55710074

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr19:55710074

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr19:55710074

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr19:55710074

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr19:55710074

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr19:55710074

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr19:55710074

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr19:55710074

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr19:60401886

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr19:60401886

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr19:60401886

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr19:60401886

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr19:60401886

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr19:60401886

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr19:60401886

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr19:60401886

 

Other external references
 

    dbSNP
  • rs16986309
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.002 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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