NM_000527.5(LDLR):c.678T>C (p.Ser226=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001483069.6
Allele description [Variation Report for NM_000527.5(LDLR):c.678T>C (p.Ser226=)]
NM_000527.5(LDLR):c.678T>C (p.Ser226=)
Condition(s)
-
0Xp112 - Chromosomal Variation in Man
0Xp112 - Chromosomal Variation in Man
-
intraflagellar transport protein 122 homolog isoform 1 [Homo sapiens]
intraflagellar transport protein 122 homolog isoform 1 [Homo sapiens]gi|256773256|ref|NP_443711.2|Protein
-
RefSeq RNA Links for Gene (Select 105372957) (8)
Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 1, 2024