NM_000531.6(OTC):c.621C>A (p.Ser207Arg) AND not provided
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- May 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000083516.2
Allele description [Variation Report for NM_000531.6(OTC):c.621C>A (p.Ser207Arg)]
NM_000531.6(OTC):c.621C>A (p.Ser207Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
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Profile neighbors for GEO Profiles (Select 64945036) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 64920963) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 44328584) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 64937279) (20)
GEO Profiles
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UGCG UDP-glucose ceramide glucosyltransferase [Homo sapiens]
UGCG UDP-glucose ceramide glucosyltransferase [Homo sapiens]Gene ID:7357Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024
SCV000115602