NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) AND not provided
- Germline classification:
- Pathogenic (2 submissions)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001724145.3
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)]
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Dec 11, 2022