MBOAT7 - Gene browser

MBOAT7

membrane bound O-acyltransferase domain containing 7

HCNC Approved Symbol: MBOAT7 (HGNC:15505)
Genomic Coordinates: 19:54,173,415 - 54,189,580 (19q13.42)
Synonyms: BB1, hMBOA-7, LPLAT, LPIAT1, LPLAT11, LENG4
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the MBOAT7 gene.

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

09
Patient count

Intellectual disability: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Hypotonia: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Epilepsy: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Congenital deafness: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Difficulty walking: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)