Variant (rsID / SNP)

rs121912993

rs121912993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,565,675. Clinical significance in the table: Pathogenic.

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Reference-table entries

DSPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:7565675
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.861T>G (p.Asn287Lys)
Allele change: Missense_N287K

Associated conditions / phenotypes

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

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.