NM_000249.4(MLH1):c.2174G>A (p.Arg725His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000764498.3
Allele description [Variation Report for NM_000249.4(MLH1):c.2174G>A (p.Arg725His)]
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
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
- Name:
- Muir-Torré syndrome (MRTES)
- Synonyms:
- Muir-Torre syndrome; Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; MSH2-Related Muir-Torre Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008018; MedGen: C1321489; Orphanet: 587; OMIM: 158320
- Name:
- Colorectal cancer, hereditary nonpolyposis, type 2 (LYNCH2)
- Synonyms:
- COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012249; MedGen: C1333991; Orphanet: 144; OMIM: 609310
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guanine nucleotide binding protein, alpha q polypeptide, isoform CRA_a [Rattus n...
guanine nucleotide binding protein, alpha q polypeptide, isoform CRA_a [Rattus norvegicus]gi|149062538|gb|EDM12961.1||gnl|WGS |rCP48552Protein
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HG535_0C00750 [Zygotorulaspora mrakii]
HG535_0C00750 [Zygotorulaspora mrakii]Gene ID:59235422Gene
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Last Updated: Sep 16, 2024