Variant (rsID / SNP)

rs141870580

rs141870580 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,476,105. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LDB3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:88476105
Cytoband: 10q23.2
HGVS: NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
Allele change: Missense_P423R

Associated conditions / phenotypes

Myofibrillar myopathy 4|Cardiovascular phenotype|Primary familial dilated cardiomyopathy

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.