SAG I76V - 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:

SAG I76V

(SAG Ile76Val)


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 @ chr2:234229320: 6.7% (699/10504) in EVS
  • G @ chr2:233894058: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 6.7% (699/10504)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr2:234229320

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr2:234229320

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr2:234229320

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr2:234229320

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr2:233894059

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr2:233894059

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr2:233894059

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr2:233894059

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr2:233894059

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr2:233894059

 

Other external references
 

    dbSNP
  • rs7565275
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.436 (possibly damaging)
    Web search results (4 hits -- see all)
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... CK2 (0.555) Polymorphism (dbSNP:rs17655) 8483504 OR5I1 Q13606 F76S 75 VAR_024101 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • 雷風警報

    tailtowakannai.iinaa.net/levntailto054.htm
  • Slayt 1
    _NextPart_01C71D17.0195DB40 Content-Location: file:///C:/A91BE4E2/Sunu1305WEB. ... htm Content-Transfer-Encoding: quoted-printable Content-Type: text/html; charset ...
    www.newmediakitchen.com/Sunu1305WEB.mht
  • WWW-NNTP 0.0.0.1 @ news.hkux.net - edu.sec.ming-yuen - SOURCE ...
    From: "_cmc" <no@nola.com> Newsgroups: edu.sec.ming-yuen Subject: 我又放窮人毒 Lines: ... 212.141 Message-ID: <4b2cf90b@news.hkux.net> Date: 20 Dec 2009 00:02:19 +0800 ...
    nntp.hk/web/source,news.hkux.net,edu.sec.ming-yuen,26742....

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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