Variant (rsID / SNP)

rs5035

rs5035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,338,998. 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: 17:42338998
Cytoband: 17q21.31
HGVS: NM_000342.4(SLC4A1):c.113A>C (p.Asp38Ala)
Allele change: Missense_D38A

Associated conditions / phenotypes

Hemolytic anemia|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.