Variant (rsID / SNP)

rs201928238

rs201928238 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CA2. Location: chromosome 8, position 86,392,912. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:86392912
Cytoband: 8q21.2
HGVS: NM_000067.3(CA2):c.677G>A (p.Arg226His)
Allele change: Missense_R226H

Associated conditions / phenotypes

Osteopetrosis with renal tubular acidosis

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.