NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002503426.1
Allele description [Variation Report for NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val)]
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val)
Condition(s)
- Name:
- Orofaciodigital syndrome type 6 (OFD6)
- Synonyms:
- OFDS VI; POLYDACTYLY, CLEFT LIP/PALATE OR LINGUAL LUMP, AND PSYCHOMOTOR RETARDATION; VARADI SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010176; MedGen: C2745997; Orphanet: 2754; OMIM: 277170
-
19 eggc.vipiWv (1)
BioProject
-
Sinorhizobium meliloti 1021
Sinorhizobium meliloti 1021Nitrogen-fixing bacteriumBioProject
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023