APOB Y1422C - GET-Evidence

Curation:
Currentness:

(See the latest version)

APOB Y1422C

(APOB Tyr1422Cys)


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Short summary

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

Variant evidence
Computational 5

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

Functional
Case/Control 5

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

Familial
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, benign

(The "low clinical importance, " 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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr2:21235475

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr2:21235475

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr2:21235475

 

 

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

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr2:21235475

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr2:21235475

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr2:21235475

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr2:21235475

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr2:21235475

 

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

 

Added in this revision:

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr2:21088980

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr2:21088980

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr2:21088980

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chr2:21088980

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr2:21088980

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

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":

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