CPO M85I - 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:

CPO M85I

(CPO Met85Ile)


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 @ chr2:207820276: 44.3% (4766/10758) in EVS
  • A @ chr2:207528520: 38.9% (49/126) in GET-Evidence
  • Frequency shown in summary reports: 44.3% (4766/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr2:207820276

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom A @ chr2:207820276

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr2:207820276

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom A @ chr2:207820276

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr2:207820276

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr2:207820276

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr2:207820276

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr2:207820276

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr2:207820276

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr2:207820276

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr2:207820276

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom A @ chr2:207820276

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr2:207820276

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr2:207820276

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr2:207820276

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr2:207820276

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr2:207820276

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr2:207820276

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr2:207820276

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr2:207820276

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr2:207820276

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr2:207820276

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr2:207820276

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr2:207820276

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr2:207820276

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr2:207820276

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr2:207820276

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr2:207820276

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr2:207528521

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr2:207528521

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr2:207528521

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr2:207528521

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr2:207528521

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr2:207528521

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr2:207528521

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr2:207528521

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr2:207528521

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr2:207528521

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr2:207528521

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr2:207528521

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr2:207528521

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr2:207528521

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr2:207528521

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr2:207528521

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr2:207528521

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr2:207528521

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr2:207528521

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr2:207528521

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr2:207528521

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr2:207528521

 

Other external references
 

    dbSNP
  • rs13420911
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.196 (benign)
    Web search results (20 hits -- see all)
  • cube-mail-18
    ... From mark.longridge@canrem.com Sat Oct 21 22:24:10 1995 Return-Path: ... 0500 Organization: CRS Online (Toronto, Ontario) Observations on the Magic Dodecahedron ...
    www.permutationpuzzles.org/rubik/cube-lovers/cube-mail-18
  • !<arch> debian-binary 1265236135 0 0 100644 4 ` 2.0 control ...
    ... q ΃-�R�$0�R�C�̐&9Rd �� άvW��� q��� $��ԩ�rï ... i�۰3�TK�Ӑ�B��Mk�5����O���~h��M �#[�ï ...
    mirrors.tummy.com/debian/pool/main/p/pm-utils/...
  • M318C MH
    ... (uKCB6T,tVmj^ukP$r,=D2r8R&IO9f]`)Z3D!@fH&7rg\]NOhq'nEt>&&A@ R]AEpr[0`bTI39>7k-L ... eHQU]TL&sji`P`8Y?0P,OJ1XSX:LL"&VldgBGEA,=#B$E=lUu":E+Qp-.=M@r$*Q +'G$tm1Q] ...
    catnewsinfo.cat.com/cda/files/349184/7/m318c_mh.eps?mode
  • 118
    ... 53 562 789 ] /Parent 2 0 R /Contents 5 0 R /Resources &lt;&lt; &gt;&gt; ... LastModified ()&gt;&gt; &gt;&gt; &gt;&gt; endobj 5 0 obj &lt;&lt; /Filter ...
    www.mofa.gov.tw/public/Attachment/471414171671.pdf
  • 第六章 微生物生态与生态工程
    U*U*U*U*U*U*U*U*U*U*U*U*U*U*U*U*U*U*U U!U"U#U$U%U&U'U(U)U*U+U,U-U.U ... K7*°c_nº[y u1LFó/ε**I*î79¡*ky#*ßî9¡*µû**gI**Äk¿ ,)+Θ£**üXτ*]y*ε*4¥*¢*à ...
    www.foodmate.net/lesson/371/6.ppt
  • Webcams - See Yahoo girls doing things they don't want ya to ...
    Home > Archive > Webcams > July 2006 > See Yahoo girls doing things ... You are viewing an archived Text-only version of the thread. To view this thread in it's ...
    hardware.mcse.ms/archive56-2006-7-315274.html
  • weekly updates _ 071.jpg (1/1) Hanging Out !! Lingerie
    posted 19 Sep 2009 00:30:12 GMT. newsgroups alt.legs,alt.pantyhose,alt.pictures.erotica. ... QT:69F.EE#8D-R4&]S:71I;VYI;F<^,CPO=&EF9CI90V)#<E!O<VET M:6]N:6YG/@H ...
    yserv.com/articolo/3464120.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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