SORCS1 N1155S - 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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Curation:
Currentness:

SORCS1 N1155S

(SORCS1 Asn1155Ser)


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

  • C @ chr10:108338917: 2.3% (246/10758) in EVS
  • C @ chr10:108328906: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 2.3% (246/10758)

Publications
 

Genomes
 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr10:108338917

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr10:108338917

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr10:108338917

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr10:108328907

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr10:108328907

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr10:108328907

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr10:108328907

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr10:108328907

 

Other external references
 

    dbSNP
  • rs11192966
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • SORCS1 Gene - GeneCards | SORC1 Protein | SORC1 Antibody
    SORCS1 Gene in genomic location: bands according to Ensembl, locations according ... SORCS1. Antibodies from Abcam (SorCS1), each with their Abpromise SM ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SORCS1
  • log.txt
    ... sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript ... VPS10 domain receptor protein SORCS 1 (Sorcs1), mRNA Log: Just created a refseq with ...
    lyle.smu.edu/cse/.../snapper/html/data/6919222512/log.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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