Variant (rsID / SNP)

rs201786090

rs201786090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,439,190. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LDB3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:88439190
Cytoband: 10q23.2
HGVS: NM_007078.3(LDB3):c.160G>A (p.Gly54Ser)
Allele change: Missense_G54S

Associated conditions / phenotypes

Myofibrillar myopathy 4

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.