UTP14C R319H - GET-Evidence

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

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UTP14C R319H

(UTP14C Arg319His)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs17402034
  • 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) ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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