Variant (rsID / SNP)

rs201693259

rs201693259 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,439,888. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

LDB3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:88439888
Cytoband: 10q23.2
HGVS: NM_007078.3(LDB3):c.295C>T (p.Pro99Ser)
Allele change: Missense_P99S

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.