Variant (rsID / SNP)

rs999890

rs999890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIKFYVE. Location: chromosome 2, position 209,190,632. Clinical significance in the table: Benign.

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Reference-table entries

PIKFYVEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:209190632
Cytoband: 2q34
HGVS: NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)
Allele change: Missense_S1033A

Associated conditions / phenotypes

Fleck corneal dystrophy

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.