RPGRIP1L D1264N - 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:

RPGRIP1L D1264N

(RPGRIP1L Asp1264Asn)


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 @ chr16:53639438: 4.1% (445/10758) in EVS
  • T @ chr16:52196938: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (445/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr16:53639438

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr16:53639438

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr16:53639438

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr16:53639438

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr16:53639438

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr16:53639438

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr16:52196939

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr16:52196939

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr16:52196939

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr16:52196939

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr16:52196939

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr16:52196939

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr16:52196939

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr16:52196939

 

Other external references
 

    dbSNP
  • rs3213758
    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 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in