Variant (rsID / SNP)

rs143820618

rs143820618 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BIN1. Location: chromosome 2, position 127,821,511. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BIN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:127821511
Cytoband: 2q14.3
HGVS: NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)
Allele change: Missense_N232K

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.