NM_000117.3(EMD):c.445G>C (p.Asp149His) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002327100.3
Allele description [Variation Report for NM_000117.3(EMD):c.445G>C (p.Asp149His)]
NM_000117.3(EMD):c.445G>C (p.Asp149His)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
PMC Links for GEO Profiles (Select 131966521) (10)
PMC
-
SPRY domain containing 3, isoform CRA_b [Homo sapiens]
SPRY domain containing 3, isoform CRA_b [Homo sapiens]gi|119617068|gb|EAW96662.1||gnl|WGS |hCP1879693Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024