MACF1 - Gene browser

MACF1

microtubule actin crosslinking factor 1

HCNC Approved Symbol: MACF1 (HGNC:13664)
Genomic Coordinates: 1:39,084,167 - 39,487,138 (1p34.3)
Synonyms: KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776, Lnc-PMIF, KIAA0754
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the MACF1 gene.

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

02
Patient count

Global development delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Seizures: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Epilepsy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Mental retardation: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)