NM_024422.6(DSC2):c.158A>T (p.Asn53Ile) AND Cardiovascular phenotype
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002398392.2
Allele description [Variation Report for NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)]
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
MAG: Austwickia sp. isolate Fred_18-Q3-R57-64_BATAC.85v2 chromosome, complete ge...
MAG: Austwickia sp. isolate Fred_18-Q3-R57-64_BATAC.85v2 chromosome, complete genomegi|1958052780|gb|CP064985.1|Nucleotide
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Anatomy, Abdomen and Pelvis: Abdominal Wall - StatPearls
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Increased CSF phenylalanine concentration
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CHAT [Onychostruthus taczanowskii]
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Severe muscular hypotonia
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Last Updated: Sep 29, 2024