MERTK S118N - 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:

MERTK S118N

(MERTK Ser118Asn)


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 @ chr2:112686988: 22.3% (2394/10758) in EVS
  • A @ chr2:112403458: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 22.3% (2394/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr2:112686988

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom A @ chr2:112686988

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr2:112686988

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr2:112686988

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr2:112686988

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr2:112686988

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr2:112686988

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr2:112686988

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr2:112686988

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr2:112686988

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr2:112686988

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr2:112686988

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr2:112403459

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr2:112403459

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr2:112403459

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr2:112403459

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr2:112403459

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr2:112403459

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr2:112403459

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr2:112403459

 

Other external references
 

    dbSNP
  • rs13027171
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • Type I- 98
    ... glycosylation site at position 238 8554050 NUP93 Q8N1F7 S509R 509 VAR_028160 CAMKL (0.700) Polymorphism ... 11971957 10576742 8349614 MERTK Q12866 S118N 118 VAR_021040 CAMKL (0. ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_98.txt
  • Type I- 95%
    ... (s) for phosphorylation site MYCBPAP Q8TBZ2 S910R 910 VAR_035005 IKK (0.685) Polymorphism (dbSNP:rs1133818) ... (0.800) CTLN1 2358466 MERTK Q12866 S118N 118 VAR_021040 CAMKL (0. ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in