Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs121908334

LDB3

rs121908334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LDB3. Location: chromosome 10, position 88,446,975. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

LDB3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:88446975
Cytoband
10q23.2
HGVS
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
Allele change
Missense_A280V

Associated conditions / phenotypes

Myofibrillar myopathy 4|Neuromuscular disease|Myofibrillar myopathy|Cardiomyopathy|Dilated cardiomyopathy 1C

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.