Variant (rsID / SNP)

rs140552419

rs140552419 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,478,597. Clinical significance in the table: Likely benign.

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Reference-table entries

LDB3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:88478597
Cytoband: 10q23.2
HGVS: NM_007078.3(LDB3):c.1971C>T (p.Cys657=)
Allele change: Synonymous_C662C

Associated conditions / phenotypes

Myofibrillar myopathy 4|Cardiovascular phenotype

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.