NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) AND Mismatch repair cancer syndrome 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000009818.5
Allele description [Variation Report for NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)]
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
Condition(s)
- Name:
- Mismatch repair cancer syndrome 1 (MMRCS1)
- Synonyms:
- BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; CHILDHOOD CANCER SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010159; MedGen: C5399763; Orphanet: 252202; OMIM: 276300
-
Rattus norvegicus thioesterase superfamily member 4, mRNA (cDNA clone MGC:112681...
Rattus norvegicus thioesterase superfamily member 4, mRNA (cDNA clone MGC:112681 IMAGE:7389383), complete cdsgi|62203425|gb|BC093385.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024