Variant (rsID / SNP)

rs5036

rs5036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,338,945. 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: 17:42338945
Cytoband: 17q21.31
HGVS: NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)
Allele change: Missense_K56E

Associated conditions / phenotypes

Band 3 memphis|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.