PCDHB16 S532G - 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:

PCDHB16 S532G

(PCDHB16 Ser532Gly)


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

  • G @ chr5:140563728: 1.3% (113/8808) in EVS
  • G @ chr5:140543911: 26.2% (22/84) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (113/8808)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr5:140563728

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom G @ chr5:140563728

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr5:140563728

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr5:140563728

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr5:140563728

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom G @ chr5:140563728

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr5:140563728

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr5:140563728

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr5:140563728

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr5:140563728

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr5:140563728

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr5:140563728

 

huE80E3D

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr5:140563728

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr5:140563728

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr5:140543912

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr5:140543912

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr5:140543912

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr5:140543912

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr5:140543912

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr5:140543912

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr5:140543912

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr5:140543912

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr5:140543912

 

Other external references
 

    dbSNP
  • rs61743494
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs2697532
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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