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Variant (rsID / SNP)

rs45562031

SLC4A1

rs45562031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,338,993. 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
17:42338993
Cytoband
17q21.31
HGVS
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
Allele change
Missense_E40K

Associated conditions / phenotypes

Hereditary spherocytosis type 4|Hemolytic anemia|Cryohydrocytosis|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.