NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) AND Cardiovascular phenotype
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002415887.3
Allele description [Variation Report for NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)]
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Haplochromis laparogramma DNA, SINE inserted locus 1220, complete sequence, spec...
Haplochromis laparogramma DNA, SINE inserted locus 1220, complete sequence, specimen_voucher: TIT-14672gi|427917512|dbj|AB670654.1|Nucleotide
-
DC044836 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC044836 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone xlk128l08ex 5', mRNA sequencegi|118926829|gnl|dbEST|43240801|dbj 4836.1|Nucleotide
-
Homo sapiens Yip1 domain family, member 1, mRNA (cDNA clone MGC:74637 IMAGE:5749...
Homo sapiens Yip1 domain family, member 1, mRNA (cDNA clone MGC:74637 IMAGE:5749036), complete cdsgi|40352919|gb|BC064590.1|Nucleotide
-
Streptococcus pyogenes strain WB147 contig24, whole genome shotgun sequence
Streptococcus pyogenes strain WB147 contig24, whole genome shotgun sequencegi|1568650825|ref|NZ_SDME01000024.1 |WGS:NZ_SDME01|contig24Nucleotide
-
Streptococcus pyogenes strain WB147 contig36, whole genome shotgun sequence
Streptococcus pyogenes strain WB147 contig36, whole genome shotgun sequencegi|1568650837|ref|NZ_SDME01000036.1 |WGS:NZ_SDME01|contig36Nucleotide
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Last Updated: Sep 29, 2024