NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) AND Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000850386.1
Allele description [Variation Report for NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)]
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)
Condition(s)
- Name:
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
- Synonyms:
- EEC SYNDROME 3; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Type 3 (EEC3); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011428; MedGen: C1858562; Orphanet: 1896; OMIM: 604292
-
rho GDP-dissociation inhibitor 2 [Homo sapiens]
rho GDP-dissociation inhibitor 2 [Homo sapiens]gi|56676393|ref|NP_001166.3|Protein
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Last Updated: Sep 17, 2022