NM_000501.4(ELN):c.710G>C (p.Gly237Ala) AND Supravalvar aortic stenosis
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001163194.8
Allele description [Variation Report for NM_000501.4(ELN):c.710G>C (p.Gly237Ala)]
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)
Condition(s)
- Name:
- Supravalvar aortic stenosis (SVAS)
- Synonyms:
- Supravalvar aortic stenosis, Eisenberg type
- Identifiers:
- MONDO: MONDO:0008504; MedGen: C0003499; Orphanet: 3193; OMIM: 185500; Human Phenotype Ontology: HP:0004381
-
Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript vari...
Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 2, mRNAgi|1890333649|ref|NM_018446.4|Nucleotide
-
Human TGF-beta inducible early protein (TIEG) mRNA, complete cds
Human TGF-beta inducible early protein (TIEG) mRNA, complete cdsgi|1155214|gb|U21847.1|HSU21847Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024