CEACAM20 S355L - 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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(CEACAM20 Ser355Leu)

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 @ chr19:45021252: 2.8% (296/10504) in EVS
  • A @ chr19:49713091: 4.8% (6/126) in GET-Evidence
  • Frequency shown in summary reports: 2.8% (296/10504)



hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr19:45021252


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr19:45021252


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr19:45021252


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr19:45021252


GS18505 - var-GS18505-1100-36-ASM
het A @ chr19:49713092


GS18555 - var-GS18555-1100-36-ASM
het A @ chr19:49713092


GS19025 - var-GS19025-1100-36-ASM
het A @ chr19:49713092


Other external references

  • rs16959164
    Web search results (8 hits -- see all)
  • CEACAM20 Gene - GeneCards | CEA20 Protein | CEA20 Antibody
    CEACAM20 Gene in genomic location: bands according to Ensembl, locations according to ... CEACAM20 for ontologies About GeneDecksing. Antibodies for CEACAM20: ...
  • Carcinoembryonic antigen-related cell adhesion molecule 20 ...
    Enter your search text here. Enter your search query here. Reset button ... antigen-related cell adhesion molecule 20 OS=Homo sapiens GN=CEACAM20 PE=2 SV=1 ...
  • UniProt: CEA20_HUMAN
    AC Q6UY09; DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot. DT ... 20; DE Flags: Precursor; GN Name=CEACAM20; ORFNames=UNQ9366/PRO34155; OS Homo sapiens ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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