NM_000527.5(LDLR):c.477C>G (p.Thr159=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002337768.2
Allele description [Variation Report for NM_000527.5(LDLR):c.477C>G (p.Thr159=)]
NM_000527.5(LDLR):c.477C>G (p.Thr159=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
PREDICTED: Pan paniscus CD55 molecule (Cromer blood group) (CD55), transcript va...
PREDICTED: Pan paniscus CD55 molecule (Cromer blood group) (CD55), transcript variant X13, mRNAgi|2694371005|ref|XM_008976508.4|Nucleotide
-
complement decay-accelerating factor isoform X12 [Pan paniscus]
complement decay-accelerating factor isoform X12 [Pan paniscus]gi|675771692|ref|XP_008974756.1|Protein
-
Homo sapiens dynein, axonemal, light intermediate chain 1, mRNA (cDNA clone MGC:...
Homo sapiens dynein, axonemal, light intermediate chain 1, mRNA (cDNA clone MGC:34133 IMAGE:5179639), complete cdsgi|24657802|gb|BC039074.1|Nucleotide
-
Homo sapiens mRNA for protocadherin alpha 11 (PCDHA11 gene)
Homo sapiens mRNA for protocadherin alpha 11 (PCDHA11 gene)gi|12274863|emb|AJ007609.1|Nucleotide
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Last Updated: Sep 29, 2024