Variant (rsID / SNP)

rs199696853

rs199696853 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLK. Location: chromosome 8, position 11,418,838. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BLKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:11418838
Cytoband: 8p23.1
HGVS: NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)
Allele change: Missense_R282C

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 11

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.