NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr) AND Corpus callosum, agenesis of
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001391262.1
Allele description [Variation Report for NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr)]
NM_000400.4(ERCC2):c.2171T>C (p.Met724Thr)
Condition(s)
- Name:
- Corpus callosum, agenesis of
- Synonyms:
- Corpus callosum agenesis; Mental retardation hypoplastic corpus callosum preauricular tag; Da silva syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009022; MedGen: C0175754; Orphanet: 200; OMIM: 217990; Human Phenotype Ontology: HP:0001274
-
M.musculus mRNA for T-cell receptor alpha chain (LB2)
M.musculus mRNA for T-cell receptor alpha chain (LB2)gi|54722|emb|X63929.1|Nucleotide
-
TP53CP (0)
Books
-
Dilkea sp. Gilbert s.n. trnL-trnT intergenic spacer, partial sequence; chloropla...
Dilkea sp. Gilbert s.n. trnL-trnT intergenic spacer, partial sequence; chloroplastgi|73486904|gb|DQ096753.1|Nucleotide
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TP53CP AND 1[s_discriminator] (0)
dbGaP
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Last Updated: Sep 29, 2024