NM_002448.3(MSX1):c.544G>A (p.Ala182Thr) AND Hypoplastic enamel-onycholysis-hypohidrosis syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001954469.4
Allele description [Variation Report for NM_002448.3(MSX1):c.544G>A (p.Ala182Thr)]
NM_002448.3(MSX1):c.544G>A (p.Ala182Thr)
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
-
kdsA [Rickettsia conorii str. Malish 7]
kdsA [Rickettsia conorii str. Malish 7]Gene ID:928110Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024