NM_000487.6(ARSA):c.1181G>A (p.Gly394Glu) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003290373.2
Allele description [Variation Report for NM_000487.6(ARSA):c.1181G>A (p.Gly394Glu)]
NM_000487.6(ARSA):c.1181G>A (p.Gly394Glu)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
PREDICTED: Mus musculus mannoside acetylglucosaminyltransferase 5 (Mgat5), trans...
PREDICTED: Mus musculus mannoside acetylglucosaminyltransferase 5 (Mgat5), transcript variant X4, mRNAgi|1907066869|ref|XM_006529057.5|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024