LRRC50 L659V - 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:

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LRRC50 L659V

(LRRC50 Leu659Val)


You are viewing an old version of this page that was saved on November 29, 2012 at 6:27am 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

  • G @ chr16:84209815: 15.7% (1686/10756) in EVS
  • GT @ chr16:82767315: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 15.7% (1686/10756)

Publications
 

Genomes
 

Added in this revision:

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr16:84209815

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr16:84209815

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr16:84209815

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr16:84209815

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr16:84209815

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr16:84209815

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr16:84209815

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr16:84209815

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr16:84209815

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr16:84209815

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr16:84209815

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr16:82767316

 

GS19670 - var-GS19670-1100-36-ASM
hom G @ chr16:82767316

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr16:82767316

 

Other external references
 

    dbSNP
  • rs2288021
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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