Variant (rsID / SNP)

rs2569232

rs2569232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3PXD2B. Location: chromosome 5, position 171,785,892. Clinical significance in the table: Benign.

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Reference-table entries

SH3PXD2BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:171785892
Cytoband: 5q35.1
HGVS: NM_001017995.3(SH3PXD2B):c.563-11T>C
Allele change: Silent

Associated conditions / phenotypes

Frank-Ter Haar syndrome

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.