FRMD7 S281L - 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.

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(FRMD7 Ser281Leu)

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

  • A @ chrX:131216454: 7.4% (646/8761) in EVS
  • A @ chrX:131044134: 3.3% (3/92) in GET-Evidence
  • Frequency shown in summary reports: 7.4% (646/8761)



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom A @ chrX:131216454



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chrX:131216454


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom A @ chrX:131216454


GS18502 - var-GS18502-1100-36-ASM
het A @ chrX:131044135


GS18508 - var-GS18508-1100-36-ASM
het A @ chrX:131044135


GS19129 - var-GS19129-1100-36-ASM
het A @ chrX:131044135


Other external references

  • rs5977625
  • Score: 0.265 (possibly damaging)
    Web search results (6 hits -- see all)
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
  • View all contents - Mental Retardation database - Leiden Open ...
    The variants below are all in the FRMD7 database. All fields are shown, including patient ... in a gene database other than FRMD7, are reported as the gene symbol ...
  • View unique variants - Mental Retardation database - Leiden ...
    Legend: [ FRMD7 full legend ] Sequence variations are described basically as recommended ... FRMD7 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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