NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val) AND Very long chain acyl-CoA dehydrogenase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001876909.4
Allele description [Variation Report for NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val)]
NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val)
Condition(s)
-
hypothetical protein [Staphylococcus epidermidis]
hypothetical protein [Staphylococcus epidermidis]gi|2581074934|ref|WP_311047094.1|Protein
-
Scardovia inopinata F0304 cont1.7, whole genome shotgun sequence
Scardovia inopinata F0304 cont1.7, whole genome shotgun sequencegi|292597499|gnl|WGS:ADCX01|cont1.7 DCX01000007.1|Nucleotide
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Homo sapiens HLX antisense RNA 1 (HLX-AS1), long non-coding RNA
Homo sapiens HLX antisense RNA 1 (HLX-AS1), long non-coding RNAgi|570700875|ref|NR_046901.1|Nucleotide
-
RecName: Full=Cation-independent mannose-6-phosphate receptor; Short=CI Man-6-P ...
RecName: Full=Cation-independent mannose-6-phosphate receptor; Short=CI Man-6-P receptor; Short=CI-MPR; Short=M6PR; AltName: Full=300 kDa mannose 6-phosphate receptor; Short=MPR 300; AltName: Full=Insulin-like growth factor 2 receptor; AltName: Full=Insulin-like growth factor II receptor; Short=IGF-II receptor; AltName: CD_antigen=CD222; Flags: Precursorgi|127295|sp|P08169.2|MPRI_BOVINProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024