Variant (rsID / SNP)

rs148211042

rs148211042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,075,521. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCB6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:220075521
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln)
Allele change: Missense_R723Q

Associated conditions / phenotypes

Familial pseudohyperkalemia

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.