SIGLEC12 A66Shift - 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:

SIGLEC12 A66Shift

(SIGLEC12 66delAinsShift)


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

  • CT,G,C @ chr19:56696606: 86.7% (111/128) in GET-Evidence
  • Frequency shown in summary reports: 86.7% (111/128)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom CT @ chr19:52004795

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr19:52004792

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het CT @ chr19:52004795

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het CT @ chr19:52004795

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het CT @ chr19:52004795

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom CT @ chr19:52004795

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het CT @ chr19:52004795

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CT @ chr19:52004795

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom CT @ chr19:52004795

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom CT @ chr19:52004795

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het CT @ chr19:52004795

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom CT @ chr19:52004795

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het CT @ chr19:52004795

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom CT @ chr19:52004795

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het CT @ chr19:52004795

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom CT @ chr19:52004795

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het CT @ chr19:52004795

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom CT @ chr19:52004795

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het CT @ chr19:52004795

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom CT @ chr19:52004795

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom CT @ chr19:52004795

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom CT @ chr19:52004795

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom CT @ chr19:52004795

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom CT @ chr19:52004795

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom CT @ chr19:52004795

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr19:52004792

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom CT @ chr19:52004795

 

GS06985 - var-GS06985-1100-36-ASM
hom CT @ chr19:56696607

 

GS06994 - var-GS06994-1100-36-ASM
het CT @ chr19:56696607

 

GS07357 - var-GS07357-1100-36-ASM
hom CT @ chr19:56696607

 

GS10851 - var-GS10851-1100-36-ASM
het CT @ chr19:56696607

 

GS12004 - var-GS12004-1100-36-ASM
het CT @ chr19:56696607

 

GS18501 - var-GS18501-1100-36-ASM
het CT @ chr19:56696607

 

GS18502 - var-GS18502-1100-36-ASM
het CT @ chr19:56696607

 

GS18504 - var-GS18504-1100-36-ASM
hom CT @ chr19:56696607

 

GS18505 - var-GS18505-1100-36-ASM
het CT @ chr19:56696607

 

GS18517 - var-GS18517-1100-36-ASM
het CT @ chr19:56696607

 

GS18526 - var-GS18526-1100-36-ASM
het CT @ chr19:56696607

 

GS18555 - var-GS18555-1100-36-ASM
het CT @ chr19:56696607

 

GS18558 - var-GS18558-1100-36-ASM
het CT @ chr19:56696607

 

GS18940 - var-GS18940-1100-36-ASM
het CT @ chr19:56696607

 

GS18947 - var-GS18947-1100-36-ASM
het CT @ chr19:56696607

 

GS18956 - var-GS18956-1100-36-ASM
het CT @ chr19:56696607

 

GS19020 - var-GS19020-1100-36-ASM
het CT @ chr19:56696607

 

GS19026 - var-GS19026-1100-36-ASM
het CT @ chr19:56696607

 

GS19129 - var-GS19129-1100-36-ASM
het CT @ chr19:56696607

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr19:56696607

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr19:56696607

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr19:56696607

 

GS19648 - var-GS19648-1100-36-ASM
hom CT @ chr19:56696607

 

GS19649 - var-GS19649-1100-36-ASM
het CT @ chr19:56696607

 

GS19669 - var-GS19669-1100-36-ASM
het CT @ chr19:56696607

 

GS19670 - var-GS19670-1100-36-ASM
hom CT @ chr19:56696607

 

GS19700 - var-GS19700-1100-36-ASM
het CT @ chr19:56696607

 

GS19701 - var-GS19701-1100-36-ASM
het CT @ chr19:56696607

 

GS19703 - var-GS19703-1100-36-ASM
het CT @ chr19:56696607

 

GS19704 - var-GS19704-1100-36-ASM
het CT @ chr19:56696607

 

GS19735 - var-GS19735-1100-36-ASM
hom CT @ chr19:56696607

 

GS19834 - var-GS19834-1100-36-ASM
hom CT @ chr19:56696607

 

GS20502 - var-GS20502-1100-36-ASM
het CT @ chr19:56696607

 

GS20509 - var-GS20509-1100-36-ASM
hom CT @ chr19:56696607

 

GS21767 - var-GS21767-1100-36-ASM
hom CT @ chr19:56696607

 

Other external references
 

    dbSNP
  • rs66949844
    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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