NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) AND Colorectal cancer, hereditary nonpolyposis, type 2
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jul 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018638.32
Allele description [Variation Report for NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)]
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
Condition(s)
- 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
-
sex hormone-binding globulin isoform 5 [Homo sapiens]
sex hormone-binding globulin isoform 5 [Homo sapiens]gi|574287947|ref|NP_001276043.1|Protein
-
Prox1 prospero homeobox 1 [Rattus norvegicus]
Prox1 prospero homeobox 1 [Rattus norvegicus]Gene ID:305066Gene
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Last Updated: Sep 29, 2024