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.

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



(SORCS1 Asn1155Ser)

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

  • 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)




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

  • rs11192966
    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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in