NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002415670.3
Allele description [Variation Report for NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)]
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens patatin like phospholipase domain containing 3 (PNPLA3), mRNA
Homo sapiens patatin like phospholipase domain containing 3 (PNPLA3), mRNAgi|1653962378|ref|NM_025225.3|Nucleotide
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Last Updated: Sep 29, 2024