CLN5 K368R - 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:

CLN5 K368R

(CLN5 Lys368Arg)


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 @ chr13:77574983: 19.0% (2040/10750) in EVS
  • G @ chr13:76472983: 26.6% (34/128) in GET-Evidence
  • Frequency shown in summary reports: 19.0% (2040/10750)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr13:77574983

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr13:77574983

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr13:77574983

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr13:77574983

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr13:77574983

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr13:76472984

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr13:76472984

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr13:76472984

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr13:76472984

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr13:76472984

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr13:76472984

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr13:76472984

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr13:76472984

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr13:76472984

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr13:76472984

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr13:76472984

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr13:76472984

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr13:76472984

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr13:76472984

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr13:76472984

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr13:76472984

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr13:76472984

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr13:76472984

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr13:76472984

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr13:76472984

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr13:76472984

 

Other external references
 

    dbSNP
  • rs1800209
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CLN5 gene
    Neuronal Ceroid-Lipofuscinoses
    CLN5-Related Neuronal Ceroid-Lipofuscinosis
    Neuronal Ceroid-Lipofuscinosis, Finnish Variant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN5
    Web search results (1 hit -- see all)
  • PolyPhen: results for O75503 K368R
    K. R. CEROID-LIPOFUSCINOSIS NEURONAL PROTEIN 5 (CLN5 PROTEIN). LENGTH: 407 AA. Prediction ... Mapping of the substitution site to known protein 3D structures ...
    tux.embl-heidelberg.de/ramensky/data/html/SNP000002899.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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