NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002460960.2
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)]
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
phosphatase and actin regulator 3 isoform 3 [Homo sapiens]
phosphatase and actin regulator 3 isoform 3 [Homo sapiens]gi|34304356|ref|NP_899069.1|Protein
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Last Updated: Jun 23, 2024