Variant (rsID / SNP)

rs794728131

rs794728131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,584,402. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DSPLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:7584402
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.6907G>C (p.Asp2303His)
Allele change: Missense_D1860H

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.