UTP14C R319H - 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:

UTP14C R319H

(UTP14C Arg319His)


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

  • A @ chr13:52603896: 7.5% (812/10758) in EVS
  • A @ chr13:51501896: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 7.5% (812/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr13:52603896

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr13:52603896

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr13:52603896

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr13:52603896

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr13:52603896

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr13:51501897

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr13:51501897

 

Other external references
 

    dbSNP
  • rs17402034
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (3 hits -- see all)
  • U3 small nucleolar RNA-associated protein 14 homolog C - Homo ...
    UTP14C. Synonyms: KIAA0266. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... R H: dbSNP rs17402034. VAR_051482. Hide | Top. SequencesHide. Sequence. Length. Mass (Da) ...
    www.uniprot.org/uniprot/Q5TAP6
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17402034*R319H. rs17402892*S879A. rs17409304*CLCA2 NM_006536 NP_006527*Q306E4chloride ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • ALG11 Gene - GeneCards | ALG11 Protein | ALG11 Antibody
    ALL other users require a commercial license from Xennex, Inc. Search (homepage) ... UTP14c is a recently acquired retrogene associated with spermatogenesis and ...
    genecards.org/cgi-bin/carddisp.pl?gene=ALG11&...&snp=40

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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