Variant (rsID / SNP)

rs199681606

rs199681606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GFM2. Location: chromosome 5, position 74,034,400. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GFM2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:74034400
Cytoband: 5q13.3
HGVS: NM_032380.5(GFM2):c.1147C>G (p.Leu383Val)
Allele change: Missense_L415V

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.