LEPRE1 G349R - 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.

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Curation:
Currentness:

(See the latest version)

LEPRE1 G349R

(LEPRE1 Gly349Arg)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:43pm by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

PolyPhen2: Probably damaging 0.979
SIFT: Affect protein function 0.00
GVGD: Class C65

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

  • T @ chr1:43223489: 6.5% (697/10758) in EVS
  • T @ chr1:42996075: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.5% (697/10758)

Publications
 

Genomes
 

 

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:42996076

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr1:42996076

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr1:42996076

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:42996076

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr1:42996076

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr1:42996076

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr1:42996076

 

NA18507

 

snp-27

 

Deleted in this revision:

snp-27

 

Other external references
 

    dbSNP
  • rs6700677
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.805 (possibly damaging)
    Web search results (5 hits -- see all)
  • Type III 97%
    ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ... Polymorphism (dbSNP:rs1880024) LEPRE1 Q32P28 P506R 508 VAR_033253 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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