SERPINA1 R125H - 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:

SERPINA1 R125H

(SERPINA1 Arg125His)


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

  • T @ chr14:94849201: 12.1% (1301/10758) in EVS
  • T @ chr14:93918953: 13.3% (17/128) in GET-Evidence
  • Frequency shown in summary reports: 12.1% (1301/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr14:94849201

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr14:94849201

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr14:94849201

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr14:94849201

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr14:94849201

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr14:94849201

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr14:94849201

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr14:94849201

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr14:94849201

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr14:94849201

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr14:94849201

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr14:93918954

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr14:93918954

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr14:93918954

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr14:93918954

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr14:93918954

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr14:93918954

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr14:93918954

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr14:93918954

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr14:93918954

 

Other external references
 

    dbSNP
  • rs709932
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (3 hits -- see all)
  • Journal of Negative Results in BioMedicine
    (SERPINA1) dbSNP rs# SNP. amino acid. Control. Lung Disease. Power to. detect 2.× increase. Power ... R125H. 38/178 (0.21) 29/182 (0.16) 0.85. 0.31. Exon 3. rs17580. 863A/T ...
    www.biomedcentral.com/content/pdf/1477-5751-5-5.pdf
  • Table 3
    AAT (SERPINA1) dbSNP rs# SNP. amino acid. Control. Lung Disease. Power to detect 2× increase ... R125H. 38/178 (0.21) 29/182 (0.16) 0.85. 0.31. Exon 3. rs17580. 863A/T ...
    www.jnrbm.com/content/5/1/5/table/T3
  • Genetic polymorphisms and susceptibility to lung disease
    AAT (SERPINA1) dbSNP rs# SNP. amino acid. Control. Lung Disease. Power to detect 2× increase ... R125H. 38/178 (0.21) 29/182 (0.16) 0.85. 0.31. Exon 3. rs17580. 863A/T ...
    www.biomedcentral.com/content/download/xml/1477-5751-5-5.xml

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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