ID1 N63D - 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:

ID1 N63D

(ID1 Asn63Asp)


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 @ chr20:30193377: 1.8% (190/10656) in EVS
  • G @ chr20:29657037: 0.8% (1/120) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (190/10656)

Publications
 

Genomes
 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr20:29657038

 

Other external references
 

    dbSNP
  • rs1802548
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.84 (possibly damaging)
    Web search results (4 hits -- see all)
  • DNA-binding protein inhibitor ID-1 - Homo sapiens (Human)
    DNA-binding protein inhibitor ID-1. PRO_0000127236. Regions. Domain. 66 ... human helix-loop-helix Id-1 protein: identification of functionally conserved ...
    www.uniprot.org/uniprot/P41134
  • %PDF-1.2 %???? 1 0 obj > endobj 2 0 ...
    ... endobj 5 0 obj 18327 endobj 6 0 obj << /Type /XObject /Subtype /Image ... Z2#7(VC$P3:="9AT+"9J`3"pbA7$o7na!YGM;+VHL5 5uD&(,&r/h"r*2nYsKZ\'iMkW1Gj-(d6e-bP ...
    www.rakuto.com/event/tryal-125cc_2007
  • 06186a12.029
    FORMAT : 86 VERSION: 9 HDRBLKS: 15 TYPE :Scan frame SITE :Indiana University ... 0 TARGET :MO SOURCEK: 50.0000000 SOURCEM: 40.0000000 FILTER :Parallel,graphite ...
    cima1.uits.iupui.edu/cima/iumsc_frames/06186a/06186a12.029
  • pdf down
    áâ£'ÍÎ~D "#ÏÐ1¾D. Ìáâ ̄³ÅÆàØC ,, …<=q. r^¼ÑÒÓÔ<›ÕD Hcø6 )D nhZjÖ×<8³ ... N6³D+€Zýþ. ‚ƒÙ„…†‡EøùZ,-ˆ ‰Š8ªZîZï‹ ýþ c.Œ Hå&¿=Žc=)cŒ6. cŒHå& 1)PØ. ÛP 'bš<›œªîïÁÂ6 ...
    pyrb.dayoo.com/page/1009/2009-09/14/A8/20090914A8_pdf.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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