SPTBN5 Q2816E - 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:

(See the latest version)

SPTBN5 Q2816E

(SPTBN5 Gln2816Glu)


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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

  • C @ chr15:42149506: 35.6% (3685/10338) in EVS
  • C @ chr15:39936797: 40.6% (43/106) in GET-Evidence
  • Frequency shown in summary reports: 35.6% (3685/10338)

Publications
 

Genomes
 

Added in this revision:

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr15:42149506

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr15:42149506

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr15:42149506

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chr15:42149506

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr15:42149506

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr15:42149506

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr15:42149506

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr15:42149506

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom C @ chr15:42149506

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr15:42149506

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr15:42149506

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr15:42149506

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr15:42149506

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr15:42149506

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr15:42149506

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr15:42149506

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr15:42149506

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr15:42149506

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr15:39936798

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr15:39936798

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr15:39936798

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr15:39936798

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr15:39936798

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr15:39936798

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr15:39936798

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr15:39936798

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr15:39936798

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr15:39936798

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr15:39936798

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr15:39936798

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr15:39936798

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr15:39936798

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr15:39936798

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr15:39936798

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr15:39936798

 

Other external references
 

    dbSNP
  • rs12442525
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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