NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser) AND Tracheoesophageal fistula
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001172302.1
Allele description [Variation Report for NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser)]
NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser)
Condition(s)
- Name:
- Tracheoesophageal fistula
- Synonyms:
- Esophageal atresia with or without tracheoesophageal fistula
- Identifiers:
- MONDO: MONDO:0008586; MeSH: D014138; MedGen: C0040588; Orphanet: 1199; OMIM: 189960; Human Phenotype Ontology: HP:0002575
-
60S ribosomal protein L14-2 [Cucumis sativus]
60S ribosomal protein L14-2 [Cucumis sativus]gi|449432536|ref|XP_004134055.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Aug 29, 2022