NM_001048174.2(MUTYH):c.573A>C (p.Thr191=) AND Familial adenomatous polyposis 2
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000470831.13
Allele description [Variation Report for NM_001048174.2(MUTYH):c.573A>C (p.Thr191=)]
NM_001048174.2(MUTYH):c.573A>C (p.Thr191=)
Condition(s)
- Name:
- Familial adenomatous polyposis 2
- Synonyms:
- COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; MYH-associated polyposis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456
-
AGAP6 AND (alive[prop]) (8)
Gene
-
GALE [Zonotrichia albicollis]
GALE [Zonotrichia albicollis]Gene ID:113460220Gene
-
SLC24A3 solute carrier family 24 member 3 [Homo sapiens]
SLC24A3 solute carrier family 24 member 3 [Homo sapiens]Gene ID:57419Gene
-
Gene Links for GEO Profiles (Select 132138020) (1)
Gene
-
Chromosome neighbors for GEO Profiles (Select 132137495) (20)
GEO Profiles
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Last Updated: Oct 13, 2024