NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000776864.3
Allele description [Variation Report for NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)]
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)
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
-
hypothetical protein ICEApl1.66 [Actinobacillus pleuropneumoniae]
hypothetical protein ICEApl1.66 [Actinobacillus pleuropneumoniae]gi|1025817245|gb|ANC67349.1|Protein
-
Genes with a similar H3K4me3 profile for Gene (Select 6235) (4)
Gene
-
Homo sapiens isolate CHM13 chromosome 10, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 10, alternate assembly T2T-CHM13v2.0gi|2194973501|gnl|ASM:GCF_009914825 ef|NC_060934.1||gpp|GPC_000012749.1||gnl|NCBI_GENOMES|119570Nucleotide
-
Loss of Chromosome 2q
Loss of Chromosome 2qMedGen
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 20, 2024