Variant (rsID / SNP)

rs148249957

rs148249957 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLNK. Location: chromosome 10, position 97,990,576. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BLNKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:97990576
Cytoband: 10q24.1
HGVS: NM_013314.4(BLNK):c.178G>A (p.Glu60Lys)
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.