Variant (rsID / SNP)

rs45555735

rs45555735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,327,418. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC4A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:42327418
Cytoband: 17q21.31
HGVS: NM_000342.4(SLC4A1):c.*408C>T
Allele change: Silent

Associated conditions / phenotypes

Hemolytic anemia|Autosomal dominant distal renal tubular acidosis|Hereditary spherocytosis type 4

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.