Variant (rsID / SNP)

rs190648042

rs190648042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3BP2. Location: chromosome 4, position 2,835,561. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SH3BP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:2835561
Cytoband: 4p16.3
HGVS: NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp)
Allele change: Missense_X562W

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.