Variant (rsID / SNP)

rs1046502

rs1046502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFER. Location: chromosome 16, position 2,035,868. Clinical significance in the table: Benign.

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Reference-table entries

GFERBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:2035868
Cytoband: 16p13.3
HGVS: NM_005262.3(GFER):c.457C>T (p.Leu153=)
Allele change: Synonymous_L153L

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.