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ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

HCNC Approved Symbol
ABL1 (HGNC:76)
Genomic Coordinates
9:130,713,043 - 130,887,675 (9q34.12)
Synonyms
JTK7, c-ABL, p150, ABL
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the ABL1 gene.

Frequently observed phenotypes

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

Inguinal hernia
 2 (28.6%)
Patent ductus arteriosus
 2 (28.6%)
Undescended testis
 2 (28.6%)
Absent/small ear lobes
 2 (28.6%)
Proportionate small stature
 2 (28.6%)
ABL1 - Gene browser | 3billion