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
-
79733[Gene ID] (78)
ClinVar
-
2518563[uid] (1)
Taxonomy
-
Rattus norvegicus neurofibromin 1 (Nf1), mRNA
Rattus norvegicus neurofibromin 1 (Nf1), mRNAgi|6981263|ref|NM_012609.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 11, 2022