Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201638005

BAG3

rs201638005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAG3. Location: chromosome 10, position 121,431,912. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

BAG3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:121431912
Cytoband
10q26.11
HGVS
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln)
Allele change
Missense_R218Q

Associated conditions / phenotypes

Cardiovascular phenotype|Left ventricular noncompaction|Myofibrillar myopathy 6|Dilated cardiomyopathy 1HH

Public references

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