Variant (rsID / SNP)

rs143764931

rs143764931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,476,446. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

LDB3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:88476446
Cytoband: 10q23.2
HGVS: NM_007078.3(LDB3):c.1594G>C (p.Ala532Pro)
Allele change: Missense_A537P

Associated conditions / phenotypes

Cardiomyopathy|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.