Variant (rsID / SNP)

rs143754727

rs143754727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GOSR2. Location: chromosome 17, position 45,008,518. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GOSR2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:45008518
Cytoband: 17q21.32
HGVS: NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)
Allele change: Missense_R50C

Associated conditions / phenotypes

Progressive myoclonic epilepsy

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.