SLC4A1 - Gene browser

SLC4A1

solute carrier family 4 member 1 (Diego blood group)

HCNC Approved Symbol: SLC4A1 (HGNC:11027)
Genomic Coordinates: 17:44,248,390 - 44,268,135 (17q21.31)
Synonyms: RTA1A, CD233, FR, SW, WR, EMPB3, EPB3, AE1, DI, WD
Disease Associations: This gene is associated with the following 11 diseases in OMIM.

31Patients

In total, 31 patients were diagnosed with a variant in the SLC4A1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

031
Patient count

Ovalocytosis: 14 (45.2%)
Patient Count: 14 (45.2%)
% of total patients presenting each phenotype is shown in parentheses.
14 (45.2%)
Hepatosplenomegaly: 8 (25.8%)
Patient Count: 8 (25.8%)
% of total patients presenting each phenotype is shown in parentheses.
8 (25.8%)
Failure to thrive: 8 (25.8%)
Patient Count: 8 (25.8%)
% of total patients presenting each phenotype is shown in parentheses.
8 (25.8%)
Renal tubular acidosis: 7 (22.6%)
Patient Count: 7 (22.6%)
% of total patients presenting each phenotype is shown in parentheses.
7 (22.6%)
Medullary nephrocalcinosis: 5 (16.1%)
Patient Count: 5 (16.1%)
% of total patients presenting each phenotype is shown in parentheses.
5 (16.1%)