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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

FRMD7 S281L

(FRMD7 Ser281Leu)


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 @ 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)

Publications
 

Genomes
 

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
 

    dbSNP
  • rs5977625
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • 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 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • 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 ...
    grenada.lumc.nl/LOVD2/MR/variants.php?select_db=FRMD7&...
  • 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. ...
    grenada.lumc.nl/LOVD2/MR/variants.php?select_db=FRMD7&...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in