Variant (rsID / SNP)

rs149812437

rs149812437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SZT2. Location: chromosome 1, position 43,903,355. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SZT2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:43903355
Cytoband: 1p34.2
HGVS: NM_001365999.1(SZT2):c.6380A>T (p.Tyr2127Phe)
Allele change: Missense_Y2070F

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.