RPGRIP1L R744Q - 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:

RPGRIP1L R744Q

(RPGRIP1L Arg744Gln)


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

  • T @ chr16:53682949: 2.6% (275/10758) in EVS
  • T @ chr16:52240449: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 2.6% (275/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr16:53682949

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr16:53682949

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr16:53682949

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr16:52240450

 

Other external references
 

    dbSNP
  • rs2302677
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RPGRIP1L gene
    Joubert Syndrome
    Meckel Syndrome
    Nephronophthisis 8
    RPGRIP1L-Related Joubert Syndrome
    RPGRIP1L-Related Meckel Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPGRIP1L
    PolyPhen-2
  • Score: 0.991 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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