NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) AND Familial adenomatous polyposis 2
- Germline classification:
- Pathogenic/Likely pathogenic (7 submissions)
- Last evaluated:
- Mar 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000369240.23
Allele description [Variation Report for NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)]
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
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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Cyberlindnera jadinii strain CBS1600, whole genome shotgun sequencing project
Cyberlindnera jadinii strain CBS1600, whole genome shotgun sequencing projectgi|906320612|emb|CDQK00000000.1|CDQ 0000Nucleotide
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t-SNARE domain-containing protein 1 isoform a [Homo sapiens]
t-SNARE domain-containing protein 1 isoform a [Homo sapiens]gi|223972648|ref|NP_659440.2|Protein
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Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA
Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNAgi|14249569|ref|NM_032848.1|Nucleotide
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Yra1p [Rhizophagus irregularis DAOM 197198w]
Yra1p [Rhizophagus irregularis DAOM 197198w]gi|595453050|gb|EXX59986.1||gnl|WGS |RirT_184010.2Protein
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Metarhizium anisopliae strain CGAIPFMS-019 small subunit ribosomal RNA gene, par...
Metarhizium anisopliae strain CGAIPFMS-019 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|1314947635|gb|KY495193.1|Nucleotide
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Last Updated: Aug 4, 2024