RPGRIP1 E1033Q - 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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(RPGRIP1 Glu1033Gln)

Short summary


Variant evidence
Computational 1

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.999811; protein features (might be) affected.
GVGD: GV 29.27; GD 0.00; Class C0
Multi-alignment of Q96KN7.2 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 [Homo sapiens] with: XP_003260813.1 [Nomascus leucogenys] XP_002753813.1 [Callithrix jacchus] XP_002808500.1 [Macaca mulatta] XP_001502806.1 [Equus caballus] XP_002824596.1 [Pongo abelii] XP_002927873.1 [Ailuropoda melanoleuca] EFB16145.1 [Ailuropoda melanoleuca] XP_002717934.1 [Oryctolagus cuniculus] DAA25473.1 [Bos taurus] NP_851377.1 [Bos taurus]

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 @ chr14:21796784: 26.2% (2534/9664) in EVS
  • C @ chr14:20866623: 26.6% (34/128) in GET-Evidence
  • Frequency shown in summary reports: 26.2% (2534/9664)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr14:21796784


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr14:21796784


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr14:21796784


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr14:21796784


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr14:21796784


hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr14:21796784


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr14:21796784


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr14:21796784




hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het C @ chr14:21796784



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr14:21796784


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr14:21796784


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr14:21796784



hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr14:21796784


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr14:21796784


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr14:21796784


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr14:21796784



huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr14:21796784


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr14:21796784


huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr14:21796784


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr14:21796784


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr14:21796784


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr14:21796784


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr14:21796784


GS06985 - var-GS06985-1100-36-ASM
het C @ chr14:20866624


GS06994 - var-GS06994-1100-36-ASM
het C @ chr14:20866624


GS07357 - var-GS07357-1100-36-ASM
het C @ chr14:20866624


GS18537 - var-GS18537-1100-36-ASM
het C @ chr14:20866624


GS18555 - var-GS18555-1100-36-ASM
het C @ chr14:20866624


GS18558 - var-GS18558-1100-36-ASM
hom C @ chr14:20866624


GS18940 - var-GS18940-1100-36-ASM
het C @ chr14:20866624


GS18942 - var-GS18942-1100-36-ASM
het C @ chr14:20866624


GS18956 - var-GS18956-1100-36-ASM
het C @ chr14:20866624


GS19669 - var-GS19669-1100-36-ASM
hom C @ chr14:20866624


GS19670 - var-GS19670-1100-36-ASM
het C @ chr14:20866624


GS20509 - var-GS20509-1100-36-ASM
het C @ chr14:20866624


Other external references

  • rs3748361
  • GeneTests records for the RPGRIP1 gene
    Leber Congenital Amaurosis
    Cone-Rod Dystrophy, Type 13
    RPGRIP1-Related Leber Congenital Amaurosis
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • Genotyping Microarray (Disease Chip) for Leber Congenital ...
    (K192E and E1033Q in RPGRIP1, A52S and L782H in. GUCY2D , D90H in AIPL1), to facilitate ... ture of the RPGR-interacting protein (RPGRIP1) gene allows the ...
  • Genotyping Microarray (Disease Chip) for Leber Congenital ...
    ... E1033Q in RPGRIP1, A52S and L782H in GUCY2D, D90H in AIPL1), to facilitate haplotype ... category include the D1114G variant in RPGRIP1 and the P701S missense change in GUCY2D. ...
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
  • Molecular Vision: Seong, Mol Vis 2008; 14:1429-1436. Table 2
    Table 2. Polymorphic sequence variations identified in this study. ... All polymorphic sequence variations in nine genes are presented here. Allele frequency ...

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

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Gene search

"GENE" or "GENE A123C":

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