Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs368863744

SLC4A1

rs368863744 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC4A1. Location: chromosome 17, position 42,338,179. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC4A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:42338179
Cytoband
17q21.31
HGVS
NM_000342.4(SLC4A1):c.173A>G (p.Tyr58Cys)
Allele change
Missense_Y58C

Associated conditions / phenotypes

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

Public references

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