KRT10 G126S - 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:

KRT10 G126S

(KRT10 Gly126Ser)


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

  • T @ chr17:38978462: 18.3% (1972/10756) in EVS
  • T @ chr17:36231987: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 18.3% (1972/10756)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr17:38978462

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr17:38978462

 

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr17:38978462

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr17:38978462

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr17:38978462

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr17:38978462

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr17:38978462

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr17:38978462

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr17:38978462

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr17:38978462

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr17:38978462

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr17:38978462

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom T @ chr17:38978462

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr17:36231988

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr17:36231988

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr17:36231988

 

NA12878

 

Other external references
 

    dbSNP
  • rs77919366
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (1 hit -- see all)
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in