Variant (rsID / SNP)

rs231399

rs231399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3BP2. Location: chromosome 4, position 2,831,383. Clinical significance in the table: Benign.

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Reference-table entries

SH3BP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:2831383
Cytoband: 4p16.3
HGVS: NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=)
Allele change: Synonymous_A250A

Associated conditions / phenotypes

Fibrous dysplasia of jaw

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.