Variant (rsID / SNP)

rs4148356

rs4148356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC1. Location: chromosome 16, position 16,177,275. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:16177275
Cytoband: 16p13.11
HGVS: NM_004996.4(ABCC1):c.2168G>A (p.Arg723Gln)
Allele change: Missense_R723Q

Associated conditions / phenotypes

Familial cancer of breast

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.