SAMD9L G1137A - 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:

SAMD9L G1137A

(SAMD9L Gly1137Ala)


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

  • G @ chr7:92761875: 3.9% (421/10758) in EVS
  • G @ chr7:92599810: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (421/10758)

Publications
 

Genomes
 

 

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr7:92599811

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr7:92599811

 

Other external references
 

    dbSNP
  • rs17165111
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • SAMD9L Gene - GeneCards | SAM9L Protein | SAM9L Antibody
    SAMD9L Gene in genomic location: bands according to Ensembl, locations according to (and ... Sigma-Aldrich Antibodies for SAMD9L. Browse R&D Systems for Antibodies ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SAMD9L
  • Sterile alpha motif domain-containing protein 9-like - Homo ...
    Databases that you can search in. Query. Enter your search text here ... G A: dbSNP rs17165111. VAR_030913. Natural variant. 1516. 1. N T: dbSNP rs10282508. ...
    www.uniprot.org/uniprot/Q8IVG5
  • Mooney Lab - MutDB
    SAMD9L. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs17165111. 1136. G A. NCBI. In dbsnp. None. Not scored. DBSNP:rs10282508. 1515. N T. NCBI ...
    mutdb.org/cgi-bin/mutdb.pl?id=SAMD9L&geneid=219285

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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