NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515285.2
Allele description [Variation Report for NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)]
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)
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
- Name:
- Pilomatrixoma (PTR)
- Synonyms:
- EPITHELIOMA CALCIFICANS OF MALHERBE; Pilomatricoma; Calcifying epithelioma of Malherbe; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007564; MeSH: D018296; MedGen: C0206711; Orphanet: 91414; OMIM: 132600; Human Phenotype Ontology: HP:0030434
- Name:
- Neoplasm of stomach
- Synonyms:
- Neoplasm of the stomach; Gastric neoplasm; Stomach Neoplasms
- Identifiers:
- MONDO: MONDO:0021085; MedGen: C0038356; Human Phenotype Ontology: HP:0006753
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Nicotiana tomentosiformis partial mRNA for Type II (MIKC) MADS-box transcription...
Nicotiana tomentosiformis partial mRNA for Type II (MIKC) MADS-box transcription factor (GLOBOSA gene), cultivar NIC479/84, clone GLO3TO1gi|605047833|emb|HG937778.1|Nucleotide
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BJ640140 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ640140 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL204p03 3', mRNA sequencegi|37497612|gnl|dbEST|19978811|dbj| 140.1|Nucleotide
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JGI_CABH5049.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7848473...
JGI_CABH5049.fwd NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7848473 5', mRNA sequencegi|74033042|gnl|dbEST|31183693|gb|D 39.1|Nucleotide
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JGI_XZT38677.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7614816 3'...
JGI_XZT38677.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7614816 3', mRNA sequencegi|74093928|gnl|dbEST|31259302|gb|C 16.2|Nucleotide
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JGI_CABH5049.rev NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7848473...
JGI_CABH5049.rev NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7848473 3', mRNA sequencegi|74033041|gnl|dbEST|31183692|gb|D 38.1|Nucleotide
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Last Updated: Sep 29, 2024