NM_001042492.3(NF1):c.1252A>G (p.Ile418Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002318930.9
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:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
PREDICTED: Brachypodium distachyon L-type lectin-domain containing receptor kina...
PREDICTED: Brachypodium distachyon L-type lectin-domain containing receptor kinase IX.1 (LOC100825664), transcript variant X1, mRNAgi|1371044668|ref|XM_003560010.4|Nucleotide
-
carbohydrate sulfotransferase 15-like isoform X1 [Salmo trutta]
carbohydrate sulfotransferase 15-like isoform X1 [Salmo trutta]gi|1696139931|ref|XP_029608500.1|Protein
-
Nanorana sp. 1G 12S ribosomal RNA gene, partial sequence; mitochondrial
Nanorana sp. 1G 12S ribosomal RNA gene, partial sequence; mitochondrialgi|1799733994|gb|MN012057.1|Nucleotide
-
Mus musculus junctional sarcoplasmic reticulum protein 1, mRNA (cDNA clone IMAGE...
Mus musculus junctional sarcoplasmic reticulum protein 1, mRNA (cDNA clone IMAGE:40045470), partial cdsgi|75517486|gb|BC104137.1|Nucleotide
-
Benign vaginal mixed epithelial and mesenchymal neoplasm
Benign vaginal mixed epithelial and mesenchymal neoplasmMedGen
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Last Updated: Sep 16, 2024