NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) AND Wolman disease
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jul 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000000095.11
Allele description [Variation Report for NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)]
NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)
Condition(s)
- Name:
- Wolman disease (WOLD)
- Synonyms:
- Acid cholesteryl ester hydrolase deficiency, Wolman type; Acid lipase disease; Wolman disease, CESD; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019148; MedGen: C0043208; OMIM: 620151
-
"208396-71-8"[CompleteSynonym] (1)
PubChem Compound
-
AGENCOURT_90940336 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:8948...
AGENCOURT_90940336 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:8948424 5', mRNA sequencegi|117310214|gnl|dbEST|42622567|gb| 168.1|Nucleotide
-
AGENCOURT_90893062 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:8947...
AGENCOURT_90893062 NICHD_XGC_tropInt_60 Xenopus tropicalis cDNA clone IMAGE:8947332 5', mRNA sequencegi|117308213|gnl|dbEST|42620562|gb| 167.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024