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Variant (rsID / SNP)

rs149519060

SH3PXD2B

rs149519060 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3PXD2B. Location: chromosome 5, position 171,780,979. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SH3PXD2BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:171780979
Cytoband
5q35.1
HGVS
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile)
Allele change
Missense_T233I

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.