Variant (rsID / SNP)

rs2230287

rs2230287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GSN. Location: chromosome 9, position 124,065,224. Clinical significance in the table: Benign.

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Reference-table entries

GSNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:124065224
Cytoband: 9q33.2
HGVS: NM_198252.3(GSN):c.232G>A (p.Ala78Thr)
Allele change: Missense_A78T

Associated conditions / phenotypes

Meretoja syndrome

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.