NM_001042492.3(NF1):c.7121del (p.Met2374fs) AND Neurofibromatosis, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003599124.2
Allele description [Variation Report for NM_001042492.3(NF1):c.7121del (p.Met2374fs)]
NM_001042492.3(NF1):c.7121del (p.Met2374fs)
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
-
Dicaeum pectorale voucher NRM_572251 NADH dehydrogenase subunit 2 (ND2) gene, co...
Dicaeum pectorale voucher NRM_572251 NADH dehydrogenase subunit 2 (ND2) gene, complete cds; mitochondrialgi|2371279396|gb|MW219283.1|Nucleotide
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GPI mannosyltransferase 1 [Homo sapiens]
GPI mannosyltransferase 1 [Homo sapiens]gi|21553315|ref|NP_660150.1|Protein
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Last Updated: Sep 29, 2024