Variant (rsID / SNP)

rs1060743

rs1060743 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BIN1. Location: chromosome 2, position 127,826,533. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BIN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:127826533
Cytoband: 2q14.3
HGVS: NM_139343.3(BIN1):c.486T>C (p.Thr162=)
Allele change: Synonymous_T162T

Associated conditions / phenotypes

Myopathy, centronuclear, 2

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.