COL9A3 A435E - 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:

COL9A3 A435E

(COL9A3 Ala435Glu)


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

  • A @ chr20:61463522: 27.1% (2915/10758) in EVS
  • A @ chr20:60933966: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 27.1% (2915/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr20:61463522

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr20:61463522

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr20:61463522

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr20:61463522

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr20:61463522

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr20:61463522

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr20:61463522

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr20:61463522

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr20:61463522

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr20:61463522

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr20:61463522

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr20:61463522

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr20:61463522

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr20:61463522

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr20:60933967

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr20:60933967

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr20:60933967

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr20:60933967

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr20:60933967

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr20:60933967

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr20:60933967

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr20:60933967

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr20:60933967

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr20:60933967

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr20:60933967

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr20:60933967

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr20:60933967

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr20:60933967

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr20:60933967

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr20:60933967

 

Other external references
 

    dbSNP
  • rs751557
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.568 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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