Variant (rsID / SNP)

rs149778841

rs149778841 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SZT2. Location: chromosome 1, position 43,891,286. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SZT2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:43891286
Cytoband: 1p34.2
HGVS: NM_001365999.1(SZT2):c.2787C>G (p.Asp929Glu)
Allele change: Missense_D929E

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.