NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003766118.1
Allele description [Variation Report for NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly)]
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly)
Condition(s)
-
TNFAIP8L3 AND (alive[prop]) (623)
Gene
-
PIEZO1-AS1 PIEZO1 antisense RNA 1 [Homo sapiens]
PIEZO1-AS1 PIEZO1 antisense RNA 1 [Homo sapiens]Gene ID:339059Gene
-
LOC339059 AND (alive[prop]) (1)
Gene
-
C11orf68 AND (alive[prop]) (658)
Gene
-
NIPAL3 AND (alive[prop]) (643)
Gene
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024