NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) AND Sudden cardiac death
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 8, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000157244.1
Allele description [Variation Report for NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)]
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys)
Condition(s)
- Name:
- Sudden cardiac death (SCD)
- Synonyms:
- Sudden adult death syndrome
- Identifiers:
- EFO: EFO_0004278; MeSH: D016757; MedGen: C0085298; Human Phenotype Ontology: HP:0001645
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SLC19A1 solute carrier family 19 member 1 [Homo sapiens]
SLC19A1 solute carrier family 19 member 1 [Homo sapiens]Gene ID:6573Gene
-
Gene Links for Nucleotide (Select 2217338118) (1)
Gene
-
SLC17A5 solute carrier family 17 member 5 [Homo sapiens]
SLC17A5 solute carrier family 17 member 5 [Homo sapiens]Gene ID:26503Gene
-
Gene Links for OMIM (Select 269920) (1)
Gene
-
Homo sapiens chromosome 2, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 2, GRCh38.p14 Primary Assemblygi|568815596|gnl|ASM:GCF_000001305| |NC_000002.12||gpp|GPC_000001294.1||gnl|NCBI_GENOMES|2Nucleotide
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Last Updated: May 7, 2024