NM_001042492.3(NF1):c.1252A>G (p.Ile418Val) AND Neurofibromatosis, type 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001860641.11
Allele description [Variation Report for NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)]
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
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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Rypticus saponaceus isolate DE3-Seq11_16S rRNA large subunit ribosomal RNA gene, partial sequence; mitochondrialgi|2431717393|gb|OQ331119.1|Nucleotide
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Rypticus saponaceus si:dkey-174m14.3 (sidkey) gene, partial cdsgi|482711911|gb|KC829673.1|Nucleotide
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Enterococcus faecium H17575 genomic scaffold acHXi-supercont1.3, whole genome sh...
Enterococcus faecium H17575 genomic scaffold acHXi-supercont1.3, whole genome shotgun sequencegi|498758295|gnl|WGS:AITQ01|acHXi-s ont1.3|gb|KB932742.1|Nucleotide
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CM3_12.5
CM3_12.5biosample
-
CBXT6841.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8888554 5', mR...
CBXT6841.b1 NICHD_XGC_trop_25 Xenopus tropicalis cDNA clone IMAGE:8888554 5', mRNA sequencegi|133812877|gnl|dbEST|45242484|gb| 524.1|Nucleotide
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Last Updated: Sep 16, 2024