Variant (rsID / SNP)

rs200956071

rs200956071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPTBN2. Location: chromosome 11, position 66,483,381. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPTBN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:66483381
Cytoband: 11q13.2
HGVS: NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp)
Allele change: Missense_R77W

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.