SERPINA9 R310I - 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!

Curation:
Currentness:

SERPINA9 R310I

(SERPINA9 Arg310Ile)


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 @ chr14:94933473: 25.0% (2530/10100) in EVS
  • A @ chr14:94003225: 23.4% (30/128) in GET-Evidence
  • Frequency shown in summary reports: 25.0% (2530/10100)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr14:94933473

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:94933473

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr14:94933473

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr14:94933473

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr14:94933473

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr14:94933473

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr14:94933473

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:94933473

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr14:94933473

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr14:94933473

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr14:94933473

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr14:94933473

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr14:94933473

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom A @ chr14:94933473

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr14:94933473

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr14:94933473

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom A @ chr14:94933473

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr14:94933473

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr14:94933473

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr14:94933473

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr14:94003226

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr14:94003226

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr14:94003226

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr14:94003226

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr14:94003226

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr14:94003226

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr14:94003226

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr14:94003226

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr14:94003226

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr14:94003226

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr14:94003226

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr14:94003226

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr14:94003226

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr14:94003226

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr14:94003226

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr14:94003226

 

Other external references
 

    dbSNP
  • rs28618118
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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