Variant (rsID / SNP)

rs121912995

rs121912995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,572,161. 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: 6:7572161
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.1990C>T (p.Gln664Ter)
Allele change: Nonsense_Q664X

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.