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Variant (rsID / SNP)

rs138510884

GOSR2

rs138510884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GOSR2. Location: chromosome 17, position 45,009,551. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GOSR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:45009551
Cytoband
17q21.32
HGVS
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)
Allele change
Missense_T108P

Associated conditions / phenotypes

Progressive myoclonic epilepsy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.