NM_001042492.3(NF1):c.1252A>G (p.Ile418Val) AND Neurofibromatosis, type 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001860641.11
Allele description [Variation Report for NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)]
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
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
-
Mus musculus junctional sarcoplasmic reticulum protein 1, mRNA (cDNA clone IMAGE...
Mus musculus junctional sarcoplasmic reticulum protein 1, mRNA (cDNA clone IMAGE:40045468), partial cdsgi|75516437|gb|BC104136.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024