NM_000297.4(PKD2):c.1477T>C (p.Leu493=) AND Autosomal dominant polycystic kidney disease
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002914225.3
Allele description [Variation Report for NM_000297.4(PKD2):c.1477T>C (p.Leu493=)]
NM_000297.4(PKD2):c.1477T>C (p.Leu493=)
Condition(s)
- Name:
- Autosomal dominant polycystic kidney disease (ADPKD)
- Identifiers:
- MONDO: MONDO:0004691; MedGen: C0085413
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Appendix D—Field Reviewers - Substance Abuse: Administrative Issues in Outpatien...
Appendix D—Field Reviewers - Substance Abuse: Administrative Issues in Outpatient Treatment
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SRX5818468 (1)
SRA
-
calcium uptake protein 3, mitochondrial isoform X8 [Homo sapiens]
calcium uptake protein 3, mitochondrial isoform X8 [Homo sapiens]gi|1370512235|ref|XP_024302901.1|Protein
-
Alstroemeria hookeri subsp. sansebastiana voucher CONC:Baeza 4175 ribosomal prot...
Alstroemeria hookeri subsp. sansebastiana voucher CONC:Baeza 4175 ribosomal protein L16 (rpl16) gene, introngi|2496753392|gb|OQ107082.1|Nucleotide
-
Phytophthora pseudocryptogea isolate R3K3 small subunit ribosomal RNA gene, part...
Phytophthora pseudocryptogea isolate R3K3 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|1281285605|gb|MG587721.1|Nucleotide
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Last Updated: Sep 29, 2024