ANXA11 R230C - 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:

ANXA11 R230C

(ANXA11 Arg230Cys)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr10:81926702: 34.1% (3663/10756) in EVS
  • A @ chr10:81916681: 37.5% (48/128) in GET-Evidence
  • Frequency shown in summary reports: 34.1% (3663/10756)

Publications
 

1. Error occurred: cannot get document summary PMID: 18690218

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr10:81926702

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:81926702

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr10:81926702

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr10:81926702

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr10:81926702

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr10:81926702

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr10:81926702

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr10:81926702

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr10:81926702

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr10:81926702

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr10:81926702

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr10:81926702

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr10:81926702

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr10:81926702

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr10:81926702

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr10:81926702

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr10:81926702

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr10:81926702

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr10:81926702

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr10:81926702

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom A @ chr10:81926702

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr10:81926702

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr10:81926702

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr10:81926702

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr10:81926702

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr10:81916682

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr10:81916682

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:81916682

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr10:81916682

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr10:81916682

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr10:81916682

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr10:81916682

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr10:81916682

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr10:81916682

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr10:81916682

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr10:81916682

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr10:81916682

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr10:81916682

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr10:81916682

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr10:81916682

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr10:81916682

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr10:81916682

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr10:81916682

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr10:81916682

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr10:81916682

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr10:81916682

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr10:81916682

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr10:81916682

 

NA12878

 

Other external references
 

    dbSNP
  • rs1049550
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Sarcoidosis]
    A genome-wide association study in 499 German individuals with sarcoidosis and 490 controls found a strong association of this nonsynonymous SNP in the ANXA11 gene with sarcoidosis.
    www.ncbi.nlm.nih.gov/pubmed/18690218
    PolyPhen-2
  • Score: 1.0 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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