NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser) AND Neurofibromatosis, type 1
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000632368.16
Allele description [Variation Report for NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)]
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
Condition(s)
- Name:
- Neurofibromatosis, type 1 (NF1)
- Synonyms:
- NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200
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Profile neighbors for GEO Profiles (Select 30553191) (200)
GEO Profiles
-
uncharacterized protein [Saccharomyces cerevisiae S288C]
uncharacterized protein [Saccharomyces cerevisiae S288C]Gene ID:856756Gene
-
Gene Links for GEO Profiles (Select 30554433) (1)
Gene
-
Related DataSets for GEO Profiles (Select 30554429) (1)
GEO DataSets
-
Triterpenoid celastrol treatment and heat shock comparison
Triterpenoid celastrol treatment and heat shock comparisonAccession: GDS2343GEO DataSets
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024