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Variant (rsID / SNP)

rs199657045

DST

rs199657045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DST. Location: chromosome 6, position 56,500,478. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DSTUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
6:56500478
Cytoband
6p12.1
HGVS
NM_001374736.1(DST):c.3095T>C (p.Leu1032Ser)
Allele change
Missense_L861S

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.