Variant (rsID / SNP)

rs139408145

rs139408145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,005,314. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCC9Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:22005314
Cytoband: 12p12.1
HGVS: NM_020297.4(ABCC9):c.2631G>A (p.Thr877=)
Allele change: Synonymous_T877T

Associated conditions / phenotypes

Cardiomyopathy|Dilated cardiomyopathy 1O|Cardiovascular phenotype|Hypertrichotic osteochondrodysplasia Cantu type

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.