NM_000535.7(PMS2):c.2030A>C (p.Glu677Ala) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000570562.5
Allele description [Variation Report for NM_000535.7(PMS2):c.2030A>C (p.Glu677Ala)]
NM_000535.7(PMS2):c.2030A>C (p.Glu677Ala)
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
-
mitochondrial carnitine/acylcarnitine carrier protein [Sarcophilus harrisii]
mitochondrial carnitine/acylcarnitine carrier protein [Sarcophilus harrisii]gi|1788863270|ref|XP_003762289.2|Protein
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See more...Assertion and evidence details
Last Updated: May 7, 2024