ClinVar
|
Risk
|
rs199422308(-;-) |
Alt
|
rs199422308(-;-) |
Reference
|
Property "RefGeno" (as page type) with input value "rs199422308(ACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGAGGCC;ACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGAGGCC)" contains invalid characters or is incomplete and therefore can cause unexpected results during a query or annotation process.rs199422308(ACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGAGGCC;ACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCCAGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTGAAGGCTGAGTGTCCGGCTGAGGCC) |
Significance |
Pathogenic |
Disease |
Idiopathic fibrosing alveolitis |
Variation | info |
---|
Gene |
TERT |
CLNDBN |
Idiopathic fibrosing alveolitis, chronic form |
Reversed |
1 |
HGVS |
NC_000005.9:g.1253662_1253838del177 |
CLNSRC |
ClinVar GeneReviews |
CLNACC |
RCV000032396.1, |