NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002320336.2
Allele description [Variation Report for NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu)]
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast) (UBE2E2)...
Homo sapiens ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast) (UBE2E2), mRNAgi|142378343|ref|NM_152653.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024