NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004020346.1
Allele description [Variation Report for NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met)]
NM_001160372.4(TRAPPC9):c.1693G>A (p.Val565Met)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|194387046|dbj|BAG59889.1|Protein
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Homo sapiens diazepam binding inhibitor, acyl-CoA binding protein (DBI), transcr...
Homo sapiens diazepam binding inhibitor, acyl-CoA binding protein (DBI), transcript variant 2, mRNAgi|1897674708|ref|NM_001079863.3|Nucleotide
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MULTISPECIES: AEC family transporter [Enterococcus]
MULTISPECIES: AEC family transporter [Enterococcus]gi|1159741687|ref|WP_079291926.1|Protein
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Nsmce1 NSE1 homolog, SMC5-SMC6 complex component [Rattus norvegicus]
Nsmce1 NSE1 homolog, SMC5-SMC6 complex component [Rattus norvegicus]Gene ID:361645Gene
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Taxonomy Links for Protein (Select 49258078) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: May 26, 2024