SLC4A4

SLC4A4

solute carrier family 4 member 4

HCNC Approved Symbol: SLC4A4 (HGNC:11030)
Genomic Coordinates: 4:71,062,660 - 71,572,083 (4q13.3)
Synonyms: NBC1, HNBC1, NBC2, pNBC, hhNMC, kNBC1, KNBC, NBCe1, SLC4A5
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SLC4A4 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Acidosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Renal tubular acidosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30