NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000762934.3
Allele description [Variation Report for NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)]
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)
Condition(s)
- Name:
- Euthyroid goiter (MNG1)
- Synonyms:
- GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION; MULTINODULAR GOITER, ADOLESCENT; SIMPLE GOITER; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007681; MedGen: C0302859; Orphanet: 276399; OMIM: 138800; Human Phenotype Ontology: HP:0009798
- Name:
- Rhabdomyosarcoma, embryonal, 2 (RMSE2)
- Identifiers:
- MONDO: MONDO:0859046; MedGen: C1867234; OMIM: 180295
- Name:
- DICER1-related tumor predisposition
- Synonyms:
- DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; DICER1 syndrome
- Identifiers:
- MONDO: MONDO:0100216; MedGen: C3839822
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DC089187 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus ...
DC089187 Yamamoto/Hyodo-Miura NIBB/NBRP Xenopus DMZ pCS2p+ cDNA library Xenopus laevis cDNA clone rxl303g17 3', mRNA sequencegi|119098175|gnl|dbEST|43368193|dbj 9187.1|Nucleotide
-
NISC_mq20b12.y1 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:5308775 5', m...
NISC_mq20b12.y1 NICHD_XGC_Emb5 Xenopus tropicalis cDNA clone IMAGE:5308775 5', mRNA sequencegi|21079381|gnl|dbEST|12436519|gb|B 94.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024