Variant (rsID / SNP)

rs181632285

rs181632285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAMBP. Location: chromosome 2, position 74,087,232. Clinical significance in the table: Uncertain significance.

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Reference-table entries

STAMBPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:74087232
Cytoband: 2p13.1
HGVS: NM_213622.4(STAMBP):c.1172G>C (p.Arg391Pro)
Allele change: Missense_R256H

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.