RGPD4 Q1169R - GET-Evidence

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

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RGPD4 Q1169R

(RGPD4 Gln1169Arg)

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 @ chr2:108487966: 4.1% (48/1168) in EVS
  • Frequency shown in summary reports: 4.1% (48/1168)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr2:108487966


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr2:108487966


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr2:108487966


hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het G @ chr2:108487966



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr2:108487966



hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr2:108487966


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr2:108487966


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr2:108487966


Other external references

  • rs832357
    Web search results (1 hit -- see all)
  • RGPD4 Gene - GeneCards | RGPD4 Protein | RGPD4 Antibody
    RGPD4 Gene in genomic location: bands according to Ensembl, locations ... for RGPD4 gene (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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