KL Chromosome 13
Klotho
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What This Gene Does
This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glycoside hydrolase family 1
Locus Type
gene with protein product
Location
13q13.1
Ensembl
ENSG00000133116
Associated Conditions (6)
Tumoral calcinosis
hyperphosphatemic
familial
3
1
KL-related disorder
Key Variants
RS121908423
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS139912465
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS141751859
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS144181834
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS146235320
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS150287359
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS199843173
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS200040161
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS200517420
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS200611452
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS370772575
Conflicting classifications of pathogenicity
Health Risk
RS387907447
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908423 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS139912465 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS141751859 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS144181834 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS146235320 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS150287359 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS199843173 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS200040161 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS200517420 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS200611452 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS370772575 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS387907447 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS563017227 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS745640577 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS746291771 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS746870927 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS762438505 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS764992732 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS934153273 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |
| RS995644762 | Health Risk | Conflicting classifications of pathogenicity | Tumoral calcinosis, hyperphosphatemic, familial |