HMCN1 T1056A - 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:

HMCN1 T1056A

(HMCN1 Thr1056Ala)


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 @ chr1:185958737: 18.0% (1932/10758) in EVS
  • G @ chr1:184225359: 15.8% (19/120) in GET-Evidence
  • Frequency shown in summary reports: 18.0% (1932/10758)

Publications
 

Genomes
 

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr1:185958737

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr1:184225360

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr1:184225360

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr1:184225360

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr1:184225360

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr1:184225360

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr1:184225360

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr1:184225360

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr1:184225360

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr1:184225360

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr1:184225360

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr1:184225360

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr1:184225360

 

Other external references
 

    dbSNP
  • rs7539719
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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