Variant (rsID / SNP)

rs200536170

rs200536170 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3PXD2B. Location: chromosome 5, position 171,833,301. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SH3PXD2BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:171833301
Cytoband: 5q35.1
HGVS: NM_001017995.3(SH3PXD2B):c.212G>A (p.Arg71Gln)
Allele change: Missense_R71Q

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.