NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003155295.8
Allele description [Variation Report for NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)]
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Profile neighbors for GEO Profiles (Select 105420116) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 120276650) (199)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 105425340) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 120304690) (20)
GEO Profiles
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KRTAP25-1 keratin associated protein 25-1 [Homo sapiens]
KRTAP25-1 keratin associated protein 25-1 [Homo sapiens]Gene ID:100131902Gene
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024