Variant (rsID / SNP)

rs121912754

rs121912754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,332,660. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC4A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:42332660
Cytoband: 17q21.31
HGVS: NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro)
Allele change: Missense_R602P

Associated conditions / phenotypes

Renal tubular acidosis, distal, 4, with hemolytic anemia

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.