Variant (rsID / SNP)

rs2234962

rs2234962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,429,633. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BAG3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:121429633
Cytoband: 10q26.11
HGVS: NM_004281.4(BAG3):c.451T>C (p.Cys151Arg)
Allele change: Missense_C151R

Associated conditions / phenotypes

Cardiovascular phenotype|Dilated cardiomyopathy 1HH|Myofibrillar myopathy 6|Dilated cardiomyopathy 1HH|Myofibrillar myopathy 6

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.