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Variant (rsID / SNP)

rs13306788

SLC4A1

rs13306788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,338,136. 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
17:42338136
Cytoband
17q21.31
HGVS
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp)
Allele change
Missense_E72D

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.