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Variant (rsID / SNP)

rs121912751

SLC4A1

rs121912751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,328,609. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC4A1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:42328609
Cytoband
17q21.31
HGVS
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)
Allele change
Missense_A858D

Associated conditions / phenotypes

Autosomal dominant distal renal tubular acidosis|Renal tubular acidosis, distal, 4, with hemolytic anemia|11 conditions|Distal renal tubular acidosis

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.