TAF1C L481M - 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:

TAF1C L481M

(TAF1C Leu481Met)


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 @ chr16:84213434: 29.2% (2874/9840) in EVS
  • T @ chr16:82770934: 18.3% (15/82) in GET-Evidence
  • Frequency shown in summary reports: 29.2% (2874/9840)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr16:84213434

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom T @ chr16:84213434

 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom T @ chr16:84213434

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr16:84213434

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr16:84213434

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr16:84213434

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr16:84213434

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr16:84213434

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr16:84213434

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr16:84213434

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr16:84213434

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr16:84213434

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr16:84213434

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr16:84213434

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr16:84213434

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr16:84213434

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr16:82770935

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr16:82770935

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr16:82770935

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr16:82770935

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr16:82770935

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr16:82770935

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr16:82770935

 

Other external references
 

    dbSNP
  • rs2230129
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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