Variant (rsID / SNP)

rs2782643

rs2782643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SZT2. Location: chromosome 1, position 43,886,494. Clinical significance in the table: Benign.

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Reference-table entries

SZT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:43886494
Cytoband: 1p34.2
HGVS: NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser)
Allele change: Missense_P446S

Associated conditions / phenotypes

Seizure|Developmental and epileptic encephalopathy, 18

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.