SPTBN4 - Gene browser | 3billion

SPTBN4

SPTBN4

spectrin beta, non-erythrocytic 4

HCNC Approved Symbol: SPTBN4 (HGNC:14896)
Genomic Coordinates: 19:40,467,001 - 40,576,464 (19q13.2)
Synonyms: SPTBN3, KIAA1642
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the SPTBN4 gene.

Frequently observed phenotypes(Top 5 only)

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

04
Patient count

Hypotonia, generalized: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Muscular hypotonia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)

Last updated: 2024-06-30

SPTBN4 - Gene browser | 3billion