NM_000322.5(PRPH2):c.*1299C>T AND Choroidal dystrophy, central areolar 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:
- RCV000352034.6
Allele description [Variation Report for NM_000322.5(PRPH2):c.*1299C>T]
NM_000322.5(PRPH2):c.*1299C>T
Condition(s)
-
chloride channel B [Arabidopsis thaliana]
chloride channel B [Arabidopsis thaliana]gi|15232105|ref|NP_189353.1|Protein
-
HSD17B3 [Taeniopygia guttata]
HSD17B3 [Taeniopygia guttata]Gene ID:115491048Gene
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Last Updated: Sep 16, 2024