FNDC1 P122S - 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:

FNDC1 P122S

(FNDC1 Pro122Ser)


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 @ chr6:159621087: 4.4% (439/9900) in EVS
  • T @ chr6:159541074: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (439/9900)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr6:159621087

 

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr6:159621087

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr6:159541075

 

Other external references
 

    dbSNP
  • rs62432291
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.958 (probably damaging)
    Web search results (1 hit -- see all)
  • Catalogue of Somatic Mutations in Cancer
    FNDC1. p.K1101K. Br13X. GRAP2. p.S304P. Br13X. GRIN2B. p.E1106K. Br13X. KIAA1377. p.K506N. Br13X ... p.P122S. Br20P. NMUR1. p.L11F. Br20P. NRK. p.R1374* Br20P. OPRD1. p.T82M ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&pmid=18772396

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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