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Variant (rsID / SNP)

rs143101723

DST

rs143101723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DST. Location: chromosome 6, position 56,505,389. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DSTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:56505389
Cytoband
6p12.1
HGVS
NM_001374736.1(DST):c.2042G>A (p.Arg681His)
Allele change
Missense_R510H

Associated conditions / phenotypes

Hereditary sensory and autonomic neuropathy type 6|Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency|Hereditary sensory and autonomic neuropathy type 6

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.