NM_001042492.3(NF1):c.6822A>G (p.Ala2274=) AND Neurofibromatosis, type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003598101.2
Allele description [Variation Report for NM_001042492.3(NF1):c.6822A>G (p.Ala2274=)]
NM_001042492.3(NF1):c.6822A>G (p.Ala2274=)
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
-
PREDICTED: Oncorhynchus keta dnaJ homolog subfamily B member 6-like (LOC11840207...
PREDICTED: Oncorhynchus keta dnaJ homolog subfamily B member 6-like (LOC118402075), mRNAgi|2401579271|ref|XM_035799946.2|Nucleotide
-
zt78c01.r1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:728448 5', mRNA seque...
zt78c01.r1 Soares_testis_NHT Homo sapiens cDNA clone IMAGE:728448 5', mRNA sequencegi|2046933|gnl|dbEST|1035297|gb|AA3 .1|Nucleotide
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Last Updated: Sep 29, 2024