Variant (rsID / SNP)

rs142059019

rs142059019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DSP. Location: chromosome 6, position 7,542,293. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DSPConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:7542293
Cytoband: 6p24.3
HGVS: NM_004415.4(DSP):c.145A>G (p.Thr49Ala)
Allele change: Missense_T49A

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.