NM_032756.4(HPDL):c.134T>A (p.Leu45Gln) AND HPDL-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003916406.1
Allele description [Variation Report for NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)]
NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)
Condition(s)
- Name:
- HPDL-related disorder
- Synonyms:
- HPDL-related condition
- Identifiers:
-
Homo sapiens cDNA FLJ76928 complete cds, highly similar to Homo sapiens transket...
Homo sapiens cDNA FLJ76928 complete cds, highly similar to Homo sapiens transketolase-like 1 (TKTL1), mRNAgi|158257879|dbj|AK292224.1|Nucleotide
-
"Laboratory for Molecular Medicine, Mass General Brigham Personal... (3)
"Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine"[submitter] AND "NPHS2"[gene]SearchClinVar
-
Pomacea canaliculata isolate:SZHN2017
Pomacea canaliculata isolate:SZHN2017Pomacea canaliculata isolate:SZHN2017 RefSeq Genome sequencingBioProject
-
BioProject Links for Nucleotide (Select 1391553808) (1)
BioProject
-
Same Parent, Connectivity for PubChem Compound (Select 59272722) (152)
PubChem Compound
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Last Updated: May 12, 2024