Variant (rsID / SNP)

rs202247290

rs202247290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTBN2. Location: chromosome 11, position 66,457,584. Clinical significance in the table: Likely benign.

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Reference-table entries

SPTBN2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:66457584
Cytoband: 11q13.2
HGVS: NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu)
Allele change: Missense_F1912L

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.