NM_000018.4(ACADVL):c.343del AND Inborn genetic diseases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003128226.1
Allele description [Variation Report for NM_000018.4(ACADVL):c.343del]
NM_000018.4(ACADVL):c.343del
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Mus musculus small integral membrane protein 22 (Smim22), transcript variant 5, ...
Mus musculus small integral membrane protein 22 (Smim22), transcript variant 5, non-coding RNAgi|359374256|ref|NR_045595.1|Nucleotide
-
tyrosine 3-monooxygenase isoform c [Homo sapiens]
tyrosine 3-monooxygenase isoform c [Homo sapiens]gi|88900505|ref|NP_954987.2|Protein
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024