Variant (rsID / SNP)

rs143992266

rs143992266 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SZT2. Location: chromosome 1, position 43,890,811. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SZT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:43890811
Cytoband: 1p34.2
HGVS: NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys)
Allele change: Missense_E860K

Associated conditions / phenotypes

Seizure

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.