NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) AND Retinal macular dystrophy type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000347822.5
Allele description [Variation Report for NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)]
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)
Condition(s)
-
Chain A, PROTEIN (NITROGENASE MOLYBDENUM IRON PROTEIN)
Chain A, PROTEIN (NITROGENASE MOLYBDENUM IRON PROTEIN)gi|6435535|pdb|1QH8|AProtein
-
Dermatologic Complication
Dermatologic ComplicationMedGen
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024