NM_000085.5(CLCNKB):c.429C>G (p.Asn143Lys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004444289.1
Allele description [Variation Report for NM_000085.5(CLCNKB):c.429C>G (p.Asn143Lys)]
NM_000085.5(CLCNKB):c.429C>G (p.Asn143Lys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
PREDICTED: Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript varia...
PREDICTED: Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant X15, mRNAgi|2217290290|ref|XM_047429268.1|Nucleotide
-
cytochrome oxidase subunit I, partial (mitochondrion) [Cochlostoma jakschae]
cytochrome oxidase subunit I, partial (mitochondrion) [Cochlostoma jakschae]gi|1514708945|gb|AYV87793.1|Protein
-
cytochrome oxidase subunit I, partial (mitochondrion) [Cochlostoma erika]
cytochrome oxidase subunit I, partial (mitochondrion) [Cochlostoma erika]gi|1067260335|gb|AOQ26156.1|Protein
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Last Updated: May 7, 2024