NM_000527.5(LDLR):c.1243G>C (p.Asp415His) AND Familial hypercholesterolemia
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001174782.4
Allele description [Variation Report for NM_000527.5(LDLR):c.1243G>C (p.Asp415His)]
NM_000527.5(LDLR):c.1243G>C (p.Asp415His)
Condition(s)
-
Vibrio parahaemolyticus Infection - StatPearls
Vibrio parahaemolyticus Infection - StatPearls
-
serine/threonine-protein kinase/endoribonuclease IRE2 isoform X3 [Mus musculus]
serine/threonine-protein kinase/endoribonuclease IRE2 isoform X3 [Mus musculus]gi|755522725|ref|XP_011240121.1|Protein
-
olfactory receptor 197 [Mus musculus]
olfactory receptor 197 [Mus musculus]gi|33239156|ref|NP_666695.1|Protein
-
Brandisia hancei isolate NE 2 voucher KUN:ChenZ-027 plastid, complete genome
Brandisia hancei isolate NE 2 voucher KUN:ChenZ-027 plastid, complete genomegi|2473916850|gb|OP262729.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024