Variant (rsID / SNP)

rs72929419

rs72929419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSCL2. Location: chromosome 11, position 62,458,663. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BSCL2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:62458663
Cytoband: 11q12.3
HGVS: NM_001122955.4(BSCL2):c.1006-50T>G
Allele change: Silent

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.