Variant (rsID / SNP)

rs370550974

rs370550974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,579,720. Clinical significance in the table: Likely benign.

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Reference-table entries

DSPLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:7579720
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)
Allele change: Missense_K1099N

Associated conditions / phenotypes

Arrhythmogenic cardiomyopathy with woolly hair and keratoderma|Arrhythmogenic right ventricular dysplasia 8|Cardiomyopathy|Dilated cardiomyopathy 1A

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.