ZNF480 P177S - 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.

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Curation:
Currentness:

ZNF480 P177S

(ZNF480 Pro177Ser)


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 @ chr19:52825032: 18.1% (1945/10758) in EVS
  • Frequency shown in summary reports: 18.1% (1945/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr19:52825032

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr19:52825032

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr19:52825032

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het T @ chr19:57516844

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr19:52825032

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr19:52825032

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr19:52825032

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr19:52825032

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr19:52825032

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr19:52825032

 

Other external references
 

    dbSNP
  • rs13343641
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.486 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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