APOB Y1422C - GET-Evidence

Curation:
Currentness:

(See the latest version)

APOB Y1422C

(APOB Tyr1422Cys)


You are viewing an old version of this page that was saved on April 2, 2010 at 11:37pm by Alexander Wait Zaranek.

Edited in this revision:

Short summary

This position is almost certainly an error in the HG18 reference sequence.

Variant evidence
Computational
Functional

This locus is a Cysteine in 99.6% of humans and all individuals in GET-Evidence.

Case/Control
Familial
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" 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 @ chr2:21235475: 100.0% (10744/10748) in EVS
  • C @ chr2:21088979: 100.0% (128/128) in GET-Evidence
  • Frequency shown in summary reports: 100.0% (10744/10748)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr2:21235475

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr2:21235475

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-26

 

snp-27

 

snp-28

 

snp-29

 

snp-3

 

snp-30

 

snp-31

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs568413
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in