NM_004415.4(DSP):c.3684del (p.Glu1229fs) AND Cardiovascular phenotype
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002346708.2
Allele description [Variation Report for NM_004415.4(DSP):c.3684del (p.Glu1229fs)]
NM_004415.4(DSP):c.3684del (p.Glu1229fs)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
PREDICTED: Homo sapiens aquaporin 12B (AQP12B), transcript variant X7, misc_RNA
PREDICTED: Homo sapiens aquaporin 12B (AQP12B), transcript variant X7, misc_RNAgi|2217330357|ref|XR_922992.3|Nucleotide
-
acid trehalase precursor [Aspergillus nidulans]
acid trehalase precursor [Aspergillus nidulans]gi|1790920|gb|AAB57642.1|Protein
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Last Updated: May 1, 2024