NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) AND Neurofibromatosis, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000200710.11
Allele description [Variation Report for NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)]
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
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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wa36f12.x1 NCI_CGAP_Kid11 Homo sapiens cDNA clone IMAGE:2300207 3', mRNA sequenc...
wa36f12.x1 NCI_CGAP_Kid11 Homo sapiens cDNA clone IMAGE:2300207 3', mRNA sequencegi|4683163|gnl|dbEST|2450637|gb|AI6 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024