Variant (rsID / SNP)

rs197922

rs197922 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GOSR2. Location: chromosome 17, position 45,008,570. Clinical significance in the table: Benign.

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Reference-table entries

GOSR2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:45008570
Cytoband: 17q21.32
HGVS: NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
Allele change: Missense_R67K

Associated conditions / phenotypes

Progressive myoclonic epilepsy|Seizure|Myoclonic epilepsy, progressive, X-linked|Progressive myoclonic epilepsy type 6

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.