Variant (rsID / SNP)

rs146405172

rs146405172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,571,360. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ABCC2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:101571360
Cytoband: 10q24.2
HGVS: NM_000392.5(ABCC2):c.1967+1G>A
Allele change: Silent

Associated conditions / phenotypes

Pseudoxanthoma elasticum

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.