NM_000543.5(SMPD1):c.1094T>C (p.Ile365Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004462024.1
Allele description [Variation Report for NM_000543.5(SMPD1):c.1094T>C (p.Ile365Thr)]
NM_000543.5(SMPD1):c.1094T>C (p.Ile365Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
AL849977 XGC-egg Xenopus tropicalis cDNA clone TEgg001n17 5', mRNA sequence
AL849977 XGC-egg Xenopus tropicalis cDNA clone TEgg001n17 5', mRNA sequencegi|38561183|gnl|dbEST|20574524|emb| 977.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024