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Variant (rsID / SNP)

rs41278172

ABCC6

rs41278172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC6. Location: chromosome 16, position 16,255,424. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCC6Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:16255424
Cytoband
16p13.11
HGVS
NM_001171.6(ABCC6):c.3507-3C>T
Allele change
Silent

Associated conditions / phenotypes

Pseudoxanthoma elasticum|Finnish congenital nephrotic syndrome|Arterial calcification, generalized, of infancy, 2|Pseudoxanthoma elasticum, forme fruste

Public references

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