Variant (rsID / SNP)

rs147874057

rs147874057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPLAH. Location: chromosome 8, position 145,108,213. Clinical significance in the table: Uncertain significance.

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Reference-table entries

OPLAHUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:145108213
Cytoband: 8q24.3
HGVS: NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys)
Allele change: Missense_R924C

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.