Variant (rsID / SNP)

rs121912749

rs121912749 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,337,869. Clinical significance in the table: Benign.

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Reference-table entries

SLC4A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:42337869
Cytoband: 17q21.31
HGVS: NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg)
Allele change: Missense_G130R

Associated conditions / phenotypes

Hereditary spherocytosis type 4|Autosomal dominant distal renal tubular acidosis

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.