Variant (rsID / SNP)

rs397514507

rs397514507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,436,451. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

BAG3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:121436451
Cytoband: 10q26.11
HGVS: NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro)
Allele change: Missense_L462P

Associated conditions / phenotypes

Dilated cardiomyopathy 1HH

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.