NC_000022.11:g.47513236_50806138del AND Phelan-McDermid syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001254357.4
Allele description [Variation Report for NC_000022.11:g.47513236_50806138del]
NC_000022.11:g.47513236_50806138del
Condition(s)
- Name:
- Phelan-McDermid syndrome
- Synonyms:
- TELOMERIC 22q13 MONOSOMY SYNDROME; 22q13.3 deletion syndrome; Chromosome 22q13.3 deletion syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011652; MedGen: C1853490; Orphanet: 48652; OMIM: 606232
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Homo sapiens OSBP-related protein 4 mRNA, complete cds
Homo sapiens OSBP-related protein 4 mRNA, complete cdsgi|12382780|gb|AF323731.1|Nucleotide
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Klebsiella variicola strain EuSCAPE_DE060 genome assembly, contig: 18174_459SCco...
Klebsiella variicola strain EuSCAPE_DE060 genome assembly, contig: 18174_459SCcontig000035, whole genome shotgun sequencegi|1454315635|emb|UJZK01000035.1|Nucleotide
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Hordeum vulgare f. agriocrithon strain ZYM0284 chymotrypsin inhibitor-2 (CI-2) g...
Hordeum vulgare f. agriocrithon strain ZYM0284 chymotrypsin inhibitor-2 (CI-2) gene, complete cdsgi|158530045|gb|EU161186.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 14, 2023