NM_000235.4(LIPA):c.*804C>T AND Lysosomal acid lipase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001093969.5
Allele description [Variation Report for NM_000235.4(LIPA):c.*804C>T]
NM_000235.4(LIPA):c.*804C>T
Condition(s)
-
Endopterygota putative glutamate synthase 1 (Glus) gene, partial cds.
Endopterygota putative glutamate synthase 1 (Glus) gene, partial cds.PopSet: 1339615347PopSet
-
Endopterygota HEM protein (Hem) gene, partial cds.
Endopterygota HEM protein (Hem) gene, partial cds.PopSet: 1339615891PopSet
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024