NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) AND Roberts-SC phocomelia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000145967.6
Allele description [Variation Report for NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)]
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)
Condition(s)
- Name:
- Roberts-SC phocomelia syndrome (RBS)
- Synonyms:
- Tetraphocomelia-cleft palate syndrome; Roberts syndrome/SC phocomelia; Long bone deficiencies associated with cleft lip-palate; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100253; MedGen: C0392475; Orphanet: 3103; OMIM: 268300
-
Nlrx1 NLR family member X1 [Mus musculus]
Nlrx1 NLR family member X1 [Mus musculus]Gene ID:270151Gene
-
270151[uid] AND (alive[prop]) (1)
Gene
-
Trim55 tripartite motif-containing 55 [Rattus norvegicus]
Trim55 tripartite motif-containing 55 [Rattus norvegicus]Gene ID:365751Gene
-
365751[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024