NM_001042492.3(NF1):c.1260+14G>T AND Neurofibromatosis, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002114611.6
Allele description [Variation Report for NM_001042492.3(NF1):c.1260+14G>T]
NM_001042492.3(NF1):c.1260+14G>T
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
-
RecName: Full=Solute carrier family 35 member G2; AltName: Full=Transmembrane pr...
RecName: Full=Solute carrier family 35 member G2; AltName: Full=Transmembrane protein 22gi|317373497|sp|Q8TBE7.3|S35G2_HUMAProtein
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Last Updated: Sep 29, 2024