NM_001042492.3(NF1):c.7880del (p.Val2627fs) AND Neurofibromatosis, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003497288.2
Allele description [Variation Report for NM_001042492.3(NF1):c.7880del (p.Val2627fs)]
NM_001042492.3(NF1):c.7880del (p.Val2627fs)
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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Protein of unknown function (DUF847) [Edwardsiella ictaluri 93-146]
Protein of unknown function (DUF847) [Edwardsiella ictaluri 93-146]gi|238869754|gb|ACR69465.1||gnl|uoh 01EI_2294Protein
-
disproportionating enzyme 1 [Vigna angularis]
disproportionating enzyme 1 [Vigna angularis]gi|440647150|dbj|BAM74439.1|Protein
-
glucanotransferase [Chlamydia pneumoniae J138]
glucanotransferase [Chlamydia pneumoniae J138]gi|8978700|dbj|BAA98536.1|Protein
-
malQ [Edwardsiella piscicida]
malQ [Edwardsiella piscicida]Gene ID:58257259Gene
-
malQ [Streptococcus gallolyticus]
malQ [Streptococcus gallolyticus]Gene ID:57922476Gene
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Last Updated: Sep 29, 2024