Variant (rsID / SNP)

rs375306400

rs375306400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,441,539. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LDB3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:88441539
Cytoband: 10q23.2
HGVS: NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
Allele change: Missense_S223L

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.