Variant (rsID / SNP)

rs2144407

rs2144407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DST. Location: chromosome 6, position 56,505,063. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DSTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:56505063
Cytoband: 6p12.1
HGVS: NM_001374736.1(DST):c.2368T>C (p.Leu790=)
Allele change: Synonymous_L619L

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

dbSNP
ClinVar
Ensembl
gnomAD

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