Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs193922683

ABCC9

rs193922683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,005,391. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ABCC9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:22005391
Cytoband
12p12.1
HGVS
NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter)
Allele change
Nonsense_Q852X

Associated conditions / phenotypes

Cardiomyopathy|Dilated cardiomyopathy 1O

Public references

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