Variant (rsID / SNP)

rs138659144

rs138659144 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSS. Location: chromosome 20, position 33,529,528. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GSSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:33529528
Cytoband: 20q11.22
HGVS: NM_000178.4(GSS):c.596A>G (p.Tyr199Cys)
Allele change: Missense_Y199C

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.