NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) AND Leber congenital amaurosis 6
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000285535.8
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)]
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr)
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: Oct 8, 2024