Variant (rsID / SNP)

rs139969658

rs139969658 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,585,971. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:7585971
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
Allele change: Missense_R2383C

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.