Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs77401687

BLK

rs77401687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BLK. Location: chromosome 8, position 11,415,492. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BLKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:11415492
Cytoband
8p23.1
HGVS
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
Allele change
Missense_K254T

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 11

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.