NM_000322.5(PRPH2):c.509del (p.Gly170fs) AND PRPH2-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001942617.3
Allele description [Variation Report for NM_000322.5(PRPH2):c.509del (p.Gly170fs)]
NM_000322.5(PRPH2):c.509del (p.Gly170fs)
Condition(s)
- Name:
- PRPH2-related disorder
- Synonyms:
- PRPH2-Related Disorders; PRPH2-related condition
- Identifiers:
- MedGen: CN239395
-
Cpgi14916 AND (alive[prop]) (0)
Gene
-
Gm46974 predicted gene, 46974 [Mus musculus]
Gm46974 predicted gene, 46974 [Mus musculus]Gene ID:108169167Gene
-
Gm46974 AND (alive[prop]) (1)
Gene
-
LOC111499808 [Cucurbita maxima]
LOC111499808 [Cucurbita maxima]Gene ID:111499808Gene
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Last Updated: May 12, 2024