NM_002448.3(MSX1):c.86C>T (p.Ala29Val) AND Hypoplastic enamel-onycholysis-hypohidrosis syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000537833.9
Allele description [Variation Report for NM_002448.3(MSX1):c.86C>T (p.Ala29Val)]
NM_002448.3(MSX1):c.86C>T (p.Ala29Val)
Condition(s)
- Name:
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)
- Synonyms:
- NAIL DYSPLASIA WITH HYPODONTIA; Witkop syndrome; Dysplasia of nails with hypodontia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008582; MedGen: C0406735; Orphanet: 2228; OMIM: 189500
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Homo sapiens folylpolyglutamate synthase (FPGS), RefSeqGene on chromosome 9; nuc...
Homo sapiens folylpolyglutamate synthase (FPGS), RefSeqGene on chromosome 9; nuclear gene for mitochondrial productgi|300116173|ref|NG_023245.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 53782417) (0)
GEO Profiles
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PREDICTED: Homo sapiens caprin family member 2 (CAPRIN2), transcript variant X12...
PREDICTED: Homo sapiens caprin family member 2 (CAPRIN2), transcript variant X12, mRNAgi|2462533970|ref|XM_054373024.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 118312081) (0)
GEO Profiles
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Similar Compounds for PubChem Compound (Select 121315907) (49)
PubChem Compound
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Last Updated: Feb 28, 2024