Variant (rsID / SNP)

rs72653762

rs72653762 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC6. Location: chromosome 16, position 16,295,863. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCC6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:16295863
Cytoband: 16p13.11
HGVS: NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly)
Allele change: Silent

Associated conditions / phenotypes

Pseudoxanthoma elasticum|Arterial calcification, generalized, of infancy, 2

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.