OPHN1 | bioCADDIE Data Discovery Index
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Displaying 20 of 37 results for "OPHN1"
  1. OPHN1_RAT

    ID: P0CAX5

    Description: Oligophrenin-1 PH Rho-GAP

  2. OPHN1_PONPY

    ID: Q7YQL5

    Description: Oligophrenin-1 PH Rho-GAP Pro-rich

  3. OPHN1_PANTR

    ID: Q7YQL6

    Description: Oligophrenin-1 PH Rho-GAP Pro-rich

  4. NM_002547.2(OPHN1):c.1126A>G (p.Lys376Glu) AND not specified

    Type: Variation

    Species: human

  5. NM_002547.2(OPHN1):c.1722G>A (p.Pro574=) AND not specified

    Type: Variation

    Species: human

  6. NM_002547.2(OPHN1):c.1749A>C (p.Ala583=) AND not specified

    Type: Variation

    Species: human

  7. NM_002547.2(OPHN1):c.2029C>A (p.Leu677Met) AND not specified

    Type: Variation

    Species: human

  8. NM_002547.2(OPHN1):c.1613A>G (p.Asp538Gly) AND not specified

    Type: Variation

    Species: human

  9. NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) AND not specified

    Type: Variation

    Species: human

  10. NM_002547.2(OPHN1):c.333G>A (p.Leu111=) AND not specified

    Type: Variation

    Species: human

  11. NM_002547.2(OPHN1):c.702+11A>C AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

    Type: Variation

    Species: human

  12. NM_002547.2(OPHN1):c.2079G>A (p.Met693Ile) AND not specified

    Type: Variation

    Species: human

  13. NM_002547.2(OPHN1):c.903G>C (p.Thr301=) AND not specified

    Type: Variation

    Species: human

  14. NM_002547.2(OPHN1):c.702+8T>C AND not specified

    Type: Variation

    Species: human

  15. NM_002547.2(OPHN1):c.1830C>T (p.Ser610=) AND not specified

    Type: Variation

    Species: human

  16. NM_002547.2(OPHN1):c.496C>T (p.Gln166Ter) AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

    Type: Variation

    Species: human

  17. NM_002547.2(OPHN1):c.2159-4C>T AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

    Type: Variation

    Species: human

  18. OPHN1, 8-BP DUP AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

    Type: Variation

    Species: human

  19. OPHN1, 2-BP DEL, NT642 AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

    Type: Variation

    Species: human

  20. OPHN1, 17.6-KB DEL AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance

    Type: Variation

    Species: human


Displaying 20 of 37 results for "OPHN1"