SRMS V255M - 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!



(SRMS Val255Met)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr20:62173817: 4.4% (471/10742) in EVS
  • T @ chr20:61644260: 4.0% (5/124) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (471/10742)



hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr20:62173817


huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr20:62173817


GS06985 - var-GS06985-1100-36-ASM
het T @ chr20:61644261


GS18505 - var-GS18505-1100-36-ASM
het T @ chr20:61644261


GS19025 - var-GS19025-1100-36-ASM
het T @ chr20:61644261


GS19026 - var-GS19026-1100-36-ASM
het T @ chr20:61644261


Other external references

  • rs34969822
  • Score: 0.993 (probably damaging)
    Web search results (5 hits -- see all)
  • SRMS Gene - GeneCards | SRMS Protein | SRMS Antibody
    SRMS Gene in genomic location: bands according to Ensembl, locations according to (and/or ... Monoclonal and Polyclonal Antibodies from Abnova (SRMS) ...
  • Tyrosine-protein kinase Srms - Homo sapiens (Human)
    ... SRMS_HUMAN Tyrosine-protein kinase Srms OS=Homo sapiens GN=SRMS PE=2 SV=1 ... kinase Srms. EC= Gene names. Name: SRMS. Synonyms: C20orf148 ...
  • Thermal Mass: Topics by
    Use of thermal desorption gas chromatography-olfactometry/mass spectrometry for ... identified and unidentified odor active compounds emitted from building products ...
  • UniProt: Q9H3Y6
    AC Q9H3Y6; DT 17-JAN-2003, integrated into UniProtKB/Swiss-Prot. DT ... protein kinase Srms; DE EC=; GN Name=SRMS; Synonyms=C20orf148; OS Homo sapiens ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in