RPAP1 R582G - GET-Evidence

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

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(RPAP1 Arg582Gly)

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

  • C @ chr15:41819367: 13.5% (1454/10758) in EVS
  • C @ chr15:39606658: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 13.5% (1454/10758)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr15:41819367


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr15:41819367


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr15:41819367


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr15:41819367




hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr15:41819367


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr15:41819367


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr15:41819367


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr15:41819367


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr15:41819367


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr15:41819367


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr15:41819367


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr15:41819367


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr15:41819367


GS06985 - var-GS06985-1100-36-ASM
het C @ chr15:39606659


GS07357 - var-GS07357-1100-36-ASM
het C @ chr15:39606659


GS10851 - var-GS10851-1100-36-ASM
het C @ chr15:39606659


GS19648 - var-GS19648-1100-36-ASM
het C @ chr15:39606659


Other external references

  • rs11630901
  • Score: 0.991 (probably damaging)
    Web search results (3 hits -- see all)
  • RPAP1 Gene - GeneCards | RPAP1 Protein | RPAP1 Antibody
    RPAP1 Gene in genomic location: bands according to Ensembl, locations ... Similarity: Belongs to the RPAP1 family. Gene Function. for RPAP1 gene (According to MGI ...
  • RNA polymerase II-associated protein 1 - Homo sapiens (Human)
    RPAP1. Synonyms: KIAA1403. Organism. Homo sapiens (Human) [Complete ... POLR2I, POLR2J, POLR2K, POLR2L, RPAP1, FCP1 plus the general transcription factors TFIIB ...
  • UniProt: RPAP1_HUMAN
    ... B.; RT "RPAP1, a novel human RNA polymerase II-associated protein affinity RT ... CC POLR2J, POLR2K, POLR2L, RPAP1, FCP1 plus the general transcription ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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