SON A2413Shift - 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:

SON A2413Shift

(SON 2413delAinsShift)


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 @ chr21:33870555: 87.5% (112/128) in GET-Evidence
  • Frequency shown in summary reports: 87.5% (112/128)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom A @ chr21:34948685

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr21:34948685

 

hu04FD18

 

hu0D879F

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr21:34948685

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr21:34948685

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr21:34948685

 

hu43860C

 

hu604D39

 

hu6E4515 - CGI sample GS000005532
hom A @ chr21:34948686

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom A @ chr21:34948685

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr21:34948685

 

hu9385BA

 

huA90CE6 - CGI sample GS000006909
hom A @ chr21:34948685

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom A @ chr21:34948685

 

huAE6220

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr21:34948685

 

huC30901

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr21:34948685

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr21:34948685

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr21:33870556

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr21:33870556

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr21:33870556

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr21:33870556

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr21:33870556

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr21:33870556

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr21:33870556

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr21:33870556

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr21:33870556

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr21:33870556

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr21:33870556

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr21:33870556

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr21:33870556

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr21:33870556

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr21:33870556

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr21:33870556

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr21:33870556

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr21:33870556

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr21:33870556

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr21:33870556

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr21:33870556

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr21:33870556

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr21:33870556

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr21:33870556

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr21:33870556

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr21:33870556

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr21:33870556

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr21:33870556

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr21:33870556

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr21:33870556

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr21:33870556

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr21:33870556

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr21:33870556

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr21:33870556

 

Other external references
 

    dbSNP
  • rs34377180
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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