SARDH R614H - 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.

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Curation:
Currentness:

(See the latest version)

SARDH R614H

(SARDH Arg614His)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • T @ chr9:136559460: 32.7% (3078/9408) in EVS
  • T @ chr9:135549280: 39.1% (50/128) in GET-Evidence
  • Frequency shown in summary reports: 32.7% (3078/9408)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr9:136559460

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr9:136559460

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr9:136559460

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr9:136559460

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr9:136559460

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr9:136559460

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr9:135549281

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr9:135549281

 

GS07357 - var-GS07357-1100-36-ASM
hom T @ chr9:135549281

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr9:135549281

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr9:135549281

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr9:135549281

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr9:135549281

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr9:135549281

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr9:135549281

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr9:135549281

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr9:135549281

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr9:135549281

 

Added in this revision:

GS19017 - var-GS19017-1100-36-ASM
het T @ chr9:135549281

 

NA07022

 

NA12156

 

NA12878

 

NA18555

 

NA18956

 

NA19129

 

snp-1

 

snp-3

 

snp-6

 

Other external references
 

    dbSNP
  • rs2073817
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.057 (benign)
    Web search results (4 hits -- see all)
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... Q9UL12 R614H 619 VAR_019687 AKT (0.581) Polymorphism (dbSNP:rs2073817) 10686491 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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