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Variant (rsID / SNP)

rs150036969

ABCC9

rs150036969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,040,784. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCC9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:22040784
Cytoband
12p12.1
HGVS
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
Allele change
Missense_E629D

Associated conditions / phenotypes

Dilated cardiomyopathy 1O|Cardiovascular phenotype|Cardiomyopathy|Conduction disorder of the heart|Hypertrichotic osteochondrodysplasia Cantu type

Public references

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