Variant (rsID / SNP)

rs2305138

rs2305138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GIGYF2. Location: chromosome 2, position 233,660,846. Clinical significance in the table: Benign.

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Reference-table entries

GIGYF2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:233660846
Cytoband: 2q37.1
HGVS: NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=)
Allele change: Synonymous_E512E

Associated conditions / phenotypes

Parkinson disease 11, autosomal dominant, susceptibility to

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.