DLK1 S260N - 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:

DLK1 S260N

(DLK1 Ser260Asn)


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

  • A @ chr14:101200860: 5.1% (544/10750) in EVS
  • Frequency shown in summary reports: 5.1% (544/10750)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr14:101200860

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr14:101200860

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr14:101200860

 

Other external references
 

    dbSNP
  • rs1058009
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (11 hits -- see all)
  • DLK1 Gene - GeneCards | DLK1 Protein | DLK1 Antibody
    DLK1 Gene in genomic location: bands according to Ensembl, locations according ... Millipore Mono- and Polyclonal Antibodies for the study of DLK1 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=DLK1
  • Protein delta homolog 1 precursor - Homo sapiens (Human)
    S N: dbSNP rs1058009. VAR_055717. Natural variant. 347. 1. Missing in ... DLK1. HPA. CAB005872. MIM. 176290. gene. Orphanet. 96184. Maternal uniparental disomy of ...
    www.uniprot.org/uniprot/P80370
  • Online Supplement
    Todd G. Kirchgessner, Judy Z. Louie, Lynn M. Ploughman, Marc S. Sabatine, Hannia ... rs1058009 DLK1. rs1801274. FCGR2A. rs770087 DUSP6. rs6050 FGA. rs1076669 ...
    atvb.ahajournals.org/cgi/data/.../DC1/1
  • Preferential reciprocal transfer of paternal/maternal DLK1 ...
    DLK1 is part of the Notch signalling pathway that controls various developmental ... To study whether variations in DLK1 affect body weight in humans, we ...
    genome.imb-jena.de/publications/.../free/Wermter_2008.pdf
  • DOI: 10.1161/01.ATV.0000247248.76409.8b 28, 2006; 2006;26 ...
    Arteriosclerosis, Thrombosis, and Vascular Biology is published by the American Heart ... rs1058009 DLK1. rs1801274. FCGR2A. rs770087 DUSP6. rs6050 FGA. rs1076669 ...
    atvb.ahajournals.org/cgi/reprint/26/12/2763.pdf
  • Mooney Lab - MutDB
    DLK1. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs1058009. 259. S N. NCBI. In dbsnp. None. Not scored. Synonymous ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=DLK1&geneid=8788
  • UniProt: P80370
    AC P80370; P15803; Q96DW5; DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot. ... DR CTD; 8788; -. DR GeneCards; GC14P100263; -. DR HGNC; HGNC:2907; DLK1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P80370

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in