GPR98 S2764L - 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:

GPR98 S2764L

(GPR98 Ser2764Leu)


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 @ chr5:90000210: 4.7% (450/9600) in EVS
  • T @ chr5:90035965: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (450/9600)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr5:90000210

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr5:90000210

 

 

 

 

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr5:90035966

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr5:90035966

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr5:90035966

 

Other external references
 

    dbSNP
  • rs16869016
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (4 hits -- see all)
  • Type I- 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... Polymorphism (dbSNP:rs6167) 10391209 GPR98 Q8WXG9 Y2232C 2232 VAR_026003 Syk ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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