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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CLN5 K368R

(CLN5 Lys368Arg)

You are viewing an old version of this page that was saved on June 23, 2011 at 12:09am by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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



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


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het 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




Deleted in this revision:









Other external references

  • rs1800209
  • GeneTests records for the CLN5 gene
    Neuronal Ceroid-Lipofuscinoses
    CLN5-Related Neuronal Ceroid-Lipofuscinosis
    Neuronal Ceroid-Lipofuscinosis, Finnish Variant
    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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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