Variant (rsID / SNP)

rs147568500

rs147568500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFER. Location: chromosome 16, position 2,036,003. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GFERUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:2036003
Cytoband: 16p13.3
HGVS: NM_005262.3(GFER):c.592G>A (p.Gly198Ser)
Allele change: Missense_G198S

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.