NM_025137.4(SPG11):c.324T>A (p.Gly108=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002323979.2
Allele description [Variation Report for NM_025137.4(SPG11):c.324T>A (p.Gly108=)]
NM_025137.4(SPG11):c.324T>A (p.Gly108=)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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Profile neighbors for GEO Profiles (Select 108158495) (200)
GEO Profiles
-
Gene Links for GEO Profiles (Select 108146632) (1)
Gene
-
NMRK1 nicotinamide riboside kinase 1 [Homo sapiens]
NMRK1 nicotinamide riboside kinase 1 [Homo sapiens]Gene ID:54981Gene
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dbVar for Gene (Select 81789) (115)
dbVar
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PREDICTED: Homo sapiens neurolysin (NLN), transcript variant X3, mRNA
PREDICTED: Homo sapiens neurolysin (NLN), transcript variant X3, mRNAgi|2462603380|ref|XM_054353003.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024