PTPRH H348Y - 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:

(See the latest version)

PTPRH H348Y

(PTPRH His348Tyr)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:50pm by Genome Importing Robot.

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 @ chr19:55713535: 55.0% (5915/10758) in EVS
  • A @ chr19:60405346: 50.9% (57/112) in GET-Evidence
  • Frequency shown in summary reports: 55.0% (5915/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr19:55713535

 

hu0D879F

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr19:55713535

 

hu9385BA

 

huAE6220

 

huBEDA0B

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr19:60405347

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr19:60405347

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr19:60405347

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr19:60405347

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr19:60405347

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr19:60405347

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr19:60405347

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr19:60405347

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr19:60405347

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr19:60405347

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr19:60405347

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr19:60405347

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr19:60405347

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr19:60405347

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr19:60405347

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr19:60405347

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr19:60405347

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr19:60405347

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr19:60405347

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr19:60405347

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr19:60405347

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr19:60405347

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr19:60405347

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr19:60405347

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr19:60405347

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr19:60405347

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr19:60405347

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr19:60405347

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr19:60405347

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr19:60405347

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr19:60405347

 

NA07022

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-31

 

Deleted in this revision:

snp-31

 

snp-5

 

Other external references
 

    dbSNP
  • rs2288515
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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