TRPM1 V1395I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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TRPM1 V1395I

(TRPM1 Val1395Ile)

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 @ chr15:31294654: 4.6% (450/9694) in EVS
  • T @ chr15:29081945: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 4.6% (450/9694)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr15:31294654


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr15:31294654



GS18537 - var-GS18537-1100-36-ASM
het T @ chr15:29081946


Other external references

  • rs3784588
  • Score: 0 (benign)
    Web search results (5 hits -- see all)
  • TRPM1 Is Mutated in Patients with Autosomal-Recessive ...
    is associated with downregulation of TRPM1. TRPM1, belonging to the family of transient ... regulation of TRPM1 in affected animals, and its localiza ...
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
  • Transient receptor potential cation channel subfamily M ...
    TRPM1. Synonyms: LTRPC1, MLSN, MLSN1. Organism. Homo sapiens (Human) ... 1. V I: dbSNP rs3784588. VAR_052374. Natural variant. 1422. 1. R G: dbSNP rs3784587. ...
  • Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar ...
    TRPM1 encoding transient receptor potential cation channel, subfamily ... c.4182G>A. p.V1395I. tolerant. 0.34. benign. 0.127. 3. rs3784588. c.2T>C. p.M1T. intolerant. 0.43 ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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