Variant (rsID / SNP)

rs117987215

rs117987215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FAM83H. Location: chromosome 8, position 144,808,572. Clinical significance in the table: Benign.

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Reference-table entries

FAM83HBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:144808572
Cytoband: 8q24.3
HGVS: NM_198488.5(FAM83H):c.3059G>A (p.Arg1020Gln)
Allele change: Missense_R1020Q

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.