KRTAP7-1 S51P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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KRTAP7-1 S51P

(KRTAP7-1 Ser51Pro)


You are viewing an old version of this page that was saved on November 29, 2012 at 6:01am by Genome Importing Robot.

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

  • None available.

Publications
 

Genomes
 

Added in this revision:

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr21:32201866

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr21:32201866

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr21:32201866

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr21:32201866

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het G @ chr21:32201866

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr21:32201866

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr21:32201866

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr21:32201866

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr21:32201866

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom G @ chr21:32201866

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr21:32201866

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr21:32201866

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr21:32201866

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr21:32201866

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr21:32201866

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr21:32201866

 

Other external references
 

    dbSNP
  • rs9982755
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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