NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys) AND Sotos syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003232779.9
Allele description [Variation Report for NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)]
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)
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
-
nsv569979 (0)
Protein Family Models
-
Manis javanica isolate:MJ74
Manis javanica isolate:MJ74Manis javanica isolate:MJ74 RefSeq Genome sequencing and assemblyBioProject
-
BioProject Links for Protein (Select 1926223820) (1)
BioProject
-
Taxonomy Links for Protein (Select 1926934648) (1)
Taxonomy
-
BioProjects for Gene (Select 126805749) (4)
BioProject
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024