Variant (rsID / SNP)

rs397514040

rs397514040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,583,585. Clinical significance in the table: Pathogenic.

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Reference-table entries

DSPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 6:7583585
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)

Associated conditions / phenotypes

Lethal acantholytic epidermolysis bullosa|Arrhythmogenic right ventricular dysplasia 8|Arrhythmogenic cardiomyopathy with woolly hair and keratoderma

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.