NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val) AND Familial adenomatous polyposis 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001992741.6
Allele description [Variation Report for NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val)]
NM_001048174.2(MUTYH):c.1546C>G (p.Leu516Val)
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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MINUTE_TSC1_WT_EZH2i_5w_recovery_4w_H3K27me3_Pool2_Rep2
MINUTE_TSC1_WT_EZH2i_5w_recovery_4w_H3K27me3_Pool2_Rep2biosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024