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Variant (rsID / SNP)

rs139350480

DST

rs139350480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DST. Location: chromosome 6, position 56,498,994. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DSTBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
6:56498994
Cytoband
6p12.1
HGVS
NM_001374736.1(DST):c.3557G>A (p.Ser1186Asn)
Allele change
Missense_S1015N

Associated conditions / phenotypes

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.