NM_006446.5(SLCO1B1):c.1043A>G (p.Gln348Arg) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004457114.1
Allele description [Variation Report for NM_006446.5(SLCO1B1):c.1043A>G (p.Gln348Arg)]
NM_006446.5(SLCO1B1):c.1043A>G (p.Gln348Arg)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA
Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNAgi|1777535652|ref|NM_018900.4|Nucleotide
-
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See more...Assertion and evidence details
Last Updated: May 7, 2024