NM_006941.4(SOX10):c.415G>T (p.Gly139Cys) AND Waardenburg syndrome type 2E
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000721947.12
Allele description [Variation Report for NM_006941.4(SOX10):c.415G>T (p.Gly139Cys)]
NM_006941.4(SOX10):c.415G>T (p.Gly139Cys)
Condition(s)
- Name:
- Waardenburg syndrome type 2E (WS2E)
- Synonyms:
- WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; WS2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT; HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA AND DEAFNESS, WITH OR WITHOUT HYPOPIGMENTATION
- Identifiers:
- MONDO: MONDO:0012698; MedGen: C2700405; Orphanet: 3440; OMIM: 611584
-
PubChem Compound Links for Gene (Select 100128016) (1)
PubChem Compound
-
suppressor of forked, partial [Drosophila kikkawai]
suppressor of forked, partial [Drosophila kikkawai]gi|46092343|dbj|BAD14258.1|Protein
-
Chromosome neighbors for GEO Profiles (Select 118312306) (20)
GEO Profiles
-
Phodopus roborovskii
Phodopus roborovskiiPhodopus roborovskii RefSeq BioProjectBioProject
-
BioProject Links for Nucleotide (Select 2318725172) (1)
BioProject
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Last Updated: May 26, 2024