NM_000527.5(LDLR):c.2055G>A (p.Pro685=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002420682.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2055G>A (p.Pro685=)]
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Nucleotide Links for Protein (Select 1057867292) (4)
Nucleotide
-
Pipistrellus nathusii genome assembly, organelle: mitochondrion
Pipistrellus nathusii genome assembly, organelle: mitochondriongi|2670513476|emb|OY979138.1|Nucleotide
-
Gene Links for GEO Profiles (Select 65369758) (1)
Gene
-
IP6K2 inositol hexakisphosphate kinase 2 [Homo sapiens]
IP6K2 inositol hexakisphosphate kinase 2 [Homo sapiens]Gene ID:51447Gene
-
Gene Links for GEO Profiles (Select 65373969) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024