NM_006343.3(MERTK):c.56_61+15del AND Retinitis pigmentosa 38
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808072.1
Allele description [Variation Report for NM_006343.3(MERTK):c.56_61+15del]
NM_006343.3(MERTK):c.56_61+15del
Condition(s)
-
beta Karyopherins
beta KaryopherinsNucleocytoplasmic transport molecules that bind to ALPHA KARYOPHERINS in the CYTOSOL and are involved in transport of molecules through the NUCLEAR PORE COMPLEX. Once inside t...<br/>Year introduced: 2002MeSH
-
Barium Sulfate
Barium SulfateA compound used as an x-ray contrast medium that occurs in nature as the mineral barite. It is also used in various manufacturing applications and mixed into heavy concrete to...<br/>MeSH
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023