NM_000527.5(LDLR):c.441C>T (p.Thr147=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002212848.6
Allele description [Variation Report for NM_000527.5(LDLR):c.441C>T (p.Thr147=)]
NM_000527.5(LDLR):c.441C>T (p.Thr147=)
Condition(s)
-
Profile neighbors for GEO Profiles (Select 109387391) (200)
GEO Profiles
-
Concise Conserved Domain Links for Protein (Select 1686100124) (1)
Conserved Domains
-
Streptococcus pasteurianus strain 4035_12 translation elongation factor Tu (tuf)...
Streptococcus pasteurianus strain 4035_12 translation elongation factor Tu (tuf) gene, partial cdsgi|1686100115|gb|MK322633.1|Nucleotide
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translation elongation factor Tu, partial [Streptococcus pasteurianus]
translation elongation factor Tu, partial [Streptococcus pasteurianus]gi|1686100116|gb|QDC27029.1|Protein
-
SRP279468 (1993)
SRA
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Last Updated: Sep 29, 2024