KNTC1 V2021G - 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!


KNTC1 V2021G

(KNTC1 Val2021Gly)

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

  • G @ chr12:123102921: 7.9% (779/9904) in EVS
  • G @ chr12:121668873: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 7.9% (779/9904)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr12:123102921


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr12:123102921


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr12:123102921


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr12:123102921


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr12:123102921


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr12:123102921


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr12:123102921


GS10851 - var-GS10851-1100-36-ASM
het G @ chr12:121668874


Other external references

  • rs11837038
  • Score: 0.992 (probably damaging)
    Web search results (4 hits -- see all)
  • KNTC1 Gene - GeneCards | KNTC1 Protein | KNTC1 Antibody
    EntrezGene summary for KNTC1: This gene encodes a protein that is one ... KNTC1 Gene in genomic location: bands according to Ensembl, locations according ...
  • Kinetochore-associated protein 1 - Homo sapiens (Human)
    Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH. ... V G: dbSNP rs11837038. VAR_051086. Hide | Top. SequencesHide. Sequence ...
  • UniProt: P50748
    Component of the RZZ CC complex composed of KNTC1/ROD, ZW10 and ZWILCH. ... GeneCards; GC12P121577; -. DR H-InvDB; HIX0022171; -. DR HGNC; HGNC:17255; KNTC1. ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

Log in