NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002399777.10
Allele description [Variation Report for NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)]
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens transcription factor 4 (TCF4), transcript variant 20, mRNA
Homo sapiens transcription factor 4 (TCF4), transcript variant 20, mRNAgi|1675149538|ref|NM_001348214.2|Nucleotide
-
Homo sapiens transcription factor 4 (TCF4), transcript variant 10, mRNA
Homo sapiens transcription factor 4 (TCF4), transcript variant 10, mRNAgi|1676318539|ref|NM_001243234.2|Nucleotide
-
Homo sapiens transcription factor 4 (TCF4), transcript variant 29, mRNA
Homo sapiens transcription factor 4 (TCF4), transcript variant 29, mRNAgi|1678209480|ref|NM_001369569.1|Nucleotide
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Last Updated: Oct 8, 2024