Variant (rsID / SNP)

rs121918312

rs121918312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,431,885. Clinical significance in the table: Pathogenic.

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Reference-table entries

BAG3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:121431885
Cytoband: 10q26.11
HGVS: NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
Allele change: Missense_P209L

Associated conditions / phenotypes

Myofibrillar myopathy 6|Dilated cardiomyopathy 1HH|Myofibrillar myopathy 6|Peripheral neuropathy

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.