Variant (rsID / SNP)

rs1048167

rs1048167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM2, HEXB. Location: chromosome 5, position 74,017,499. Clinical significance in the table: Benign.

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Reference-table entries

GFM2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:74017499
Cytoband: 5q13.3
HGVS: NM_032380.5(GFM2):c.2321G>A (p.Arg774Gln)
Allele change: Missense_R806Q

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.