DSTYK Chromosome 1
Dual serine/threonine and tyrosine protein kinase
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What This Gene Does
This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Associated Conditions (9)
DSTYK-related disorder
Congenital anomalies of kidney and urinary tract 1
Hereditary spastic paraplegia 23
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Adrenocortical carcinoma
hereditary
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Complex hereditary spastic paraplegia
Key Variants
RS113488459
Conflicting classifications of pathogenicity
DSTYK-related disorder, DSTYK-related disorder
Health Risk
RS148815814
Conflicting classifications of pathogenicity
Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder, Congenital anomalies of kidney and urinary tract 1
Health Risk
RS200780796
Conflicting classifications of pathogenicity
Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
Health Risk
RS201091809
Conflicting classifications of pathogenicity
Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder, Hereditary spastic paraplegia 23
Health Risk
RS202068245
Conflicting classifications of pathogenicity
Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder, Congenital anomalies of kidney and urinary tract 1
Health Risk
RS367692056
Conflicting classifications of pathogenicity
Congenital anomalies of kidney and urinary tract 1, Uterine corpus endometrial carcinoma, Ovarian serous cystadenocarcinoma
Health Risk
RS369367865
Conflicting classifications of pathogenicity
DSTYK-related disorder, DSTYK-related disorder
Health Risk
RS377628453
Conflicting classifications of pathogenicity
Health Risk
RS56147706
Conflicting classifications of pathogenicity
Health Risk
RS77626160
Conflicting classifications of pathogenicity
Congenital anomalies of kidney and urinary tract 1, Hereditary spastic paraplegia 23, Complex hereditary spastic paraplegia
Health Risk
RS2102413524
Likely pathogenic
Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
Health Risk
RS2526841964
Likely pathogenic
Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113488459 | Health Risk | Conflicting classifications of pathogenicity | DSTYK-related disorder, DSTYK-related disorder |
| RS148815814 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder, Congenital anomalies of kidney and urinary tract 1 |
| RS200780796 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1 |
| RS201091809 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder, Hereditary spastic paraplegia 23 |
| RS202068245 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomalies of kidney and urinary tract 1, DSTYK-related disorder, Congenital anomalies of kidney and urinary tract 1 |
| RS367692056 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomalies of kidney and urinary tract 1, Uterine corpus endometrial carcinoma, Ovarian serous cystadenocarcinoma |
| RS369367865 | Health Risk | Conflicting classifications of pathogenicity | DSTYK-related disorder, DSTYK-related disorder |
| RS377628453 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56147706 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77626160 | Health Risk | Conflicting classifications of pathogenicity | Congenital anomalies of kidney and urinary tract 1, Hereditary spastic paraplegia 23, Complex hereditary spastic paraplegia |
| RS2102413524 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1 |
| RS2526841964 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1 |
| RS746112821 | Health Risk | Likely pathogenic | Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1 |
| RS879255515 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1 |