NM_001048174.2(MUTYH):c.704+8G>A AND Familial adenomatous polyposis 2
Clinical significance:Likely benign (Last evaluated: Sep 15, 2020)
Review status:
- Based on:
- 1 submission [Details]
- Record status:
- current
- Accession:
- RCV001443870.4
Allele description [Variation Report for NM_001048174.2(MUTYH):c.704+8G>A]
NM_001048174.2(MUTYH):c.704+8G>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
Assertion and evidence details
Last Updated: Nov 5, 2022