Variant (rsID / SNP)

rs148612299

rs148612299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLNK. Location: chromosome 10, position 97,983,635. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BLNKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:97983635
Cytoband: 10q24.1
HGVS: NM_013314.4(BLNK):c.472G>T (p.Ala158Ser)
Allele change: Silent

Associated conditions / phenotypes

Agammaglobulinemia 4, autosomal recessive

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.