SRMS V457L - 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:

SRMS V457L

(SRMS Val457Leu)


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 @ chr20:62172269: 16.9% (1821/10754) in EVS
  • A @ chr20:61642712: 18.5% (23/124) in GET-Evidence
  • Frequency shown in summary reports: 16.9% (1821/10754)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr20:62172269

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr20:62172269

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr20:62172269

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr20:62172269

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr20:61642713

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr20:61642713

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr20:61642713

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr20:61642713

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr20:61642713

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr20:61642713

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr20:61642713

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr20:61642713

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr20:61642713

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr20:61642713

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr20:61642713

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr20:61642713

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr20:61642713

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr20:61642713

 

NA12878

 

Other external references
 

    dbSNP
  • rs310654
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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