HTRA1 Chromosome 10
HtrA serine peptidase 1
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What This Gene Does
This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Serine proteases|PDZ domain containing"
Locus Type
gene with protein product
Location
10q26.13
Ensembl
ENSG00000166033
Associated Conditions (17)
Macular degeneration
CARASIL syndrome
Cerebral arteriopathy
autosomal dominant
with subcortical infarcts and leukoencephalopathy
type 2
HTRA1-related disorder
Age related macular degeneration 7
Inborn genetic diseases
HTRA1-related cerebral small vessel disease
Cerebral arterial disease
HTRA1-related autosomal dominant cerebral small vessel disease
Cognitive impairment
Seizure
Personality changes
Small vessel cerebrovascular disease
Vascular dementia
Key Variants
RS1246114252
Conflicting classifications of pathogenicity
Macular degeneration, Macular degeneration
Health Risk
RS1357930157
Conflicting classifications of pathogenicity
CARASIL syndrome, Cerebral arteriopathy, autosomal dominant
Health Risk
RS1438223502
Conflicting classifications of pathogenicity
CARASIL syndrome, CARASIL syndrome
Health Risk
RS149294320
Conflicting classifications of pathogenicity
Health Risk
RS201190236
Conflicting classifications of pathogenicity
Macular degeneration, Macular degeneration
Health Risk
RS201305795
Conflicting classifications of pathogenicity
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy
Health Risk
RS202167109
Conflicting classifications of pathogenicity
Macular degeneration, Macular degeneration
Health Risk
RS372750076
Conflicting classifications of pathogenicity
CARASIL syndrome, CARASIL syndrome
Health Risk
RS373287445
Conflicting classifications of pathogenicity
HTRA1-related disorder, HTRA1-related disorder
Health Risk
RS374675648
Conflicting classifications of pathogenicity
Macular degeneration, Macular degeneration
Health Risk
RS376449340
Conflicting classifications of pathogenicity
Age related macular degeneration 7, HTRA1-related disorder, Age related macular degeneration 7
Health Risk
RS530087850
Conflicting classifications of pathogenicity
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1246114252 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, Macular degeneration |
| RS1357930157 | Health Risk | Conflicting classifications of pathogenicity | CARASIL syndrome, Cerebral arteriopathy, autosomal dominant |
| RS1438223502 | Health Risk | Conflicting classifications of pathogenicity | CARASIL syndrome, CARASIL syndrome |
| RS149294320 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201190236 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, Macular degeneration |
| RS201305795 | Health Risk | Conflicting classifications of pathogenicity | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS202167109 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, Macular degeneration |
| RS372750076 | Health Risk | Conflicting classifications of pathogenicity | CARASIL syndrome, CARASIL syndrome |
| RS373287445 | Health Risk | Conflicting classifications of pathogenicity | HTRA1-related disorder, HTRA1-related disorder |
| RS374675648 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, Macular degeneration |
| RS376449340 | Health Risk | Conflicting classifications of pathogenicity | Age related macular degeneration 7, HTRA1-related disorder, Age related macular degeneration 7 |
| RS530087850 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS541204010 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, HTRA1-related disorder, Inborn genetic diseases |
| RS541533723 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS550039968 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, Macular degeneration |
| RS587776446 | Health Risk | Conflicting classifications of pathogenicity | CARASIL syndrome, HTRA1-related cerebral small vessel disease, Cerebral arteriopathy |
| RS761008513 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, Macular degeneration |
| RS768665565 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779261850 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS996483189 | Health Risk | Conflicting classifications of pathogenicity | Macular degeneration, Macular degeneration |
| RS1267457680 | Health Risk | Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1477855514 | Health Risk | Likely pathogenic | — |
| RS1554948318 | Health Risk | Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1554950655 | Health Risk | Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1554952277 | Health Risk | Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1591022148 | Health Risk | Likely pathogenic | — |
| RS2097481554 | Health Risk | Likely pathogenic | CARASIL syndrome, CARASIL syndrome |
| RS2133905257 | Health Risk | Likely pathogenic | — |
| RS2497622964 | Health Risk | Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS587776445 | Health Risk | Likely pathogenic | CARASIL syndrome, CARASIL syndrome |
| RS748074236 | Health Risk | Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS754645487 | Health Risk | Likely pathogenic | — |
| RS864622781 | Health Risk | Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS113993968 | Health Risk | Pathogenic | CARASIL syndrome, Cerebral arteriopathy, autosomal dominant |
| RS113993969 | Health Risk | Pathogenic | CARASIL syndrome, CARASIL syndrome |
| RS1273355332 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1554950703 | Health Risk | Pathogenic | CARASIL syndrome, CARASIL syndrome |
| RS1554952291 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS2097481521 | Health Risk | Pathogenic | HTRA1-related autosomal dominant cerebral small vessel disease, HTRA1-related autosomal dominant cerebral small vessel disease |
| RS2497576382 | Health Risk | Pathogenic | — |
| RS587776448 | Health Risk | Pathogenic | CARASIL syndrome, CARASIL syndrome |
| RS781563777 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS864622782 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS864622783 | Health Risk | Pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS113993970 | Health Risk | Pathogenic/Likely pathogenic | CARASIL syndrome, Cognitive impairment, Seizure |
| RS113993971 | Health Risk | Pathogenic/Likely pathogenic | CARASIL syndrome, HTRA1-related cerebral small vessel disease, CARASIL syndrome |
| RS1432594571 | Health Risk | Pathogenic/Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS1554948302 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2097494390 | Health Risk | Pathogenic/Likely pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy |
| RS2133449474 | Health Risk | Pathogenic/Likely pathogenic | CARASIL syndrome, Cerebral arteriopathy, autosomal dominant |