NM_000527.5(LDLR):c.966del (p.Asn322fs) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002379508.2
Allele description [Variation Report for NM_000527.5(LDLR):c.966del (p.Asn322fs)]
NM_000527.5(LDLR):c.966del (p.Asn322fs)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Mus musculus small nuclear ribonucleoprotein N (Snrpn), transcript variant 4, mR...
Mus musculus small nuclear ribonucleoprotein N (Snrpn), transcript variant 4, mRNAgi|1167503309|ref|NM_001349690.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024