Variant (rsID / SNP)

rs121909578

rs121909578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CA1. Location: chromosome 8, position 86,240,835. Clinical significance in the table: Pathogenic.

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Reference-table entries

CA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:86240835
Cytoband: 8q21.2
HGVS: NM_001128831.4(CA1):c.740G>A (p.Arg247His)
Allele change: Missense_R247H

Associated conditions / phenotypes

Carbonic anhydrase I deficiency

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.