Variant (rsID / SNP)

rs143924906

rs143924906 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DST. Location: chromosome 6, position 56,494,193. Clinical significance in the table: Likely benign.

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Reference-table entries

DSTLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:56494193
Cytoband: 6p12.1
HGVS: NM_001374736.1(DST):c.4330G>A (p.Glu1444Lys)
Allele change: Missense_E1273K

Associated conditions / phenotypes

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

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.