Variant (rsID / SNP)
rs121912998
rs121912998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,542,236. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:7542236
- Cytoband
- 6p24.3
- HGVS
- NM_004415.4(DSP):c.88G>A (p.Val30Met)
- Allele change
- Missense_V30M
Associated conditions / phenotypes
Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic right ventricular cardiomyopathy|Cardiomyopathy|Right ventricular cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Skin fragility-woolly hair-palmoplantar keratoderma syndrome|Keratosis palmoplantaris striata 2|Lethal acantholytic epidermolysis bullosa
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.