NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004065244.1
Allele description [Variation Report for NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr)]
NM_005502.4(ABCA1):c.1679T>C (p.Ile560Thr)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens general transcription factor IIi (GTF2I), transcript variant 2, mRN...
Homo sapiens general transcription factor IIi (GTF2I), transcript variant 2, mRNAgi|1677473409|ref|NM_033000.4|Nucleotide
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Last Updated: Sep 29, 2024