NM_003924.4(PHOX2B):c.659C>A (p.Pro220Gln) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002375819.2
Allele description [Variation Report for NM_003924.4(PHOX2B):c.659C>A (p.Pro220Gln)]
NM_003924.4(PHOX2B):c.659C>A (p.Pro220Gln)
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
-
Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric), mRNA (cDNA clone MGC...
Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric), mRNA (cDNA clone MGC:34612 IMAGE:5195322), complete cdsgi|20810520|gb|BC029140.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024