Variant (rsID / SNP)

rs35807245

rs35807245 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,333,071. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC4A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:42333071
Cytoband: 17q21.31
HGVS: NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=)
Allele change: Synonymous_K590K

Associated conditions / phenotypes

Autosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4|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.