NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003352899.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs)]
NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
TTC7B AND (alive[prop]) (672)
Gene
-
MLKL AND (alive[prop]) (1901)
Gene
-
SRI AND (alive[prop]) (15263)
Gene
-
PubChem Compound Links for Gene (Select 54059) (16)
PubChem Compound
-
Homo sapiens ybeY metalloendoribonuclease (YBEY), transcript variant 3, mRNA
Homo sapiens ybeY metalloendoribonuclease (YBEY), transcript variant 3, mRNAgi|1676440597|ref|NM_001314022.2|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024