NM_000152.5(GAA):c.1143C>T (p.Thr381=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002450810.2
Allele description [Variation Report for NM_000152.5(GAA):c.1143C>T (p.Thr381=)]
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
D-lysine 5,6-aminomutase beta subunit [uncultured spirochete]
D-lysine 5,6-aminomutase beta subunit [uncultured spirochete]gi|1528066174|emb|SLM11282.1||gnl|W DM|SLM11282Protein
-
D-lysine 5,6-aminomutase alpha subunit [Actinokineospora sp. UTMC 2448]
D-lysine 5,6-aminomutase alpha subunit [Actinokineospora sp. UTMC 2448]gi|2290870080|gnl|DSMZ|Actkin_03090 VS79343.1|Protein
-
Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA
Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNAgi|1519244459|ref|NM_000418.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024