Variant (rsID / SNP)

rs12944167

rs12944167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GOSR2. Location: chromosome 17, position 45,000,565. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GOSR2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:45000565
Cytoband: 17q21.32
HGVS: NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
Allele change: Missense_P3T

Associated conditions / phenotypes

Progressive myoclonic epilepsy|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.