DLK1 S260N - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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DLK1 S260N

(DLK1 Ser260Asn)

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

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



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

  • rs1058009
    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 ...
  • 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 ...
  • Online Supplement
    Todd G. Kirchgessner, Judy Z. Louie, Lynn M. Ploughman, Marc S. Sabatine, Hannia ... rs1058009 DLK1. rs1801274. FCGR2A. rs770087 DUSP6. rs6050 FGA. rs1076669 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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