SASH1 - Gene browser

SASH1

SAM and SH3 domain containing 1

HCNC Approved Symbol: SASH1 (HGNC:19182)
Genomic Coordinates: 6:148,193,468 - 148,552,044 (6q24.3-q25.1)
Synonyms: KIAA0790, dJ323M4.1, SH3D6A
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

5Patients

In total, 5 patients were diagnosed with a variant in the SASH1 gene.

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

05
Patient count

Multiple lentigines: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Abnormality of skin pigmentation: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Freckles in sun-exposed areas: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Skin photosensitivity: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Aortic dilatation: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)