NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter) AND Sotos syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003231321.8
Allele description [Variation Report for NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter)]
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter)
Condition(s)
- Name:
- Sotos syndrome (SOTOS)
- Synonyms:
- Sotos' syndrome; Cerebral gigantism; Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019349; MedGen: C0175695; Orphanet: 821; OMIM: 117550
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RecName: Full=Choriogonadotropin subunit beta 7; Flags: Precursor
RecName: Full=Choriogonadotropin subunit beta 7; Flags: Precursorgi|1027923600|sp|P0DN87.1|CGB7_HUMAProtein
-
RecName: Full=Syntenin-2; AltName: Full=Similar to TACIP18; Short=SITAC; AltName...
RecName: Full=Syntenin-2; AltName: Full=Similar to TACIP18; Short=SITAC; AltName: Full=Syndecan-binding protein 2gi|20455288|sp|Q9H190.2|SDCB2_HUMANProtein
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Mus musculus coiled-coil domain containing 42, mRNA (cDNA clone MGC:170062 IMAGE...
Mus musculus coiled-coil domain containing 42, mRNA (cDNA clone MGC:170062 IMAGE:8861457), complete cdsgi|223461037|gb|BC138437.1|Nucleotide
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Petrocephalus keatingii isolate TM707 cytochrome b (cytb) gene, partial cds; mit...
Petrocephalus keatingii isolate TM707 cytochrome b (cytb) gene, partial cds; mitochondrialgi|1584454589|gb|MH380906.1|Nucleotide
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hypothetical protein DDB_G0288763 [Dictyostelium discoideum AX4]
hypothetical protein DDB_G0288763 [Dictyostelium discoideum AX4]gi|60464947|gnl|WGS:AAFI|DDB0219378 AL63061.1|Protein
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Last Updated: Oct 20, 2024