Variant (rsID / SNP)

rs63750402

rs63750402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC6. Location: chromosome 16, position 16,253,371. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ABCC6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:16253371
Cytoband: 16p13.11
HGVS: NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)
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.