NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) AND Neurofibromatosis, type 1
- Germline classification:
- Conflicting interpretations of pathogenicity (3 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:
- RCV000204550.18
Allele description [Variation Report for NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)]
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
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
-
Taxonomy Links for Protein (Select 2325773962) (1)
Taxonomy
-
Homo sapiens cytoplasmic polyadenylation element binding protein 4, mRNA (cDNA c...
Homo sapiens cytoplasmic polyadenylation element binding protein 4, mRNA (cDNA clone MGC:150759 IMAGE:40125701), complete cdsgi|109658953|gb|BC117150.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024