NM_001048174.2(MUTYH):c.1102+1G>A AND Familial adenomatous polyposis 2
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000503838.15
Allele description [Variation Report for NM_001048174.2(MUTYH):c.1102+1G>A]
NM_001048174.2(MUTYH):c.1102+1G>A
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
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ST18 ST18 C2H2C-type zinc finger transcription factor [Homo sapiens]
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024