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Variant (rsID / SNP)

rs147390654

SLC4A1

rs147390654 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,337,247. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC4A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:42337247
Cytoband
17q21.31
HGVS
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
Allele change
Missense_R180H

Associated conditions / phenotypes

Autosomal dominant distal renal tubular acidosis|Renal tubular acidosis, distal, 4, with hemolytic anemia|Hereditary spherocytosis type 4|Hereditary spherocytosis type 4|Hemolytic anemia|Autosomal dominant 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.