CDKN1C, cyclin dependent kinase inhibitor 1C, 1028
N. diseases: 298; N. variants: 32
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 11 | 2884796 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884860 | frameshift variant | -/AGCGGGGCCGG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884846 | frameshift variant | GCCG/CCC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884859 | frameshift variant | C/TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884855 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2885089 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2885156 | frameshift variant | -/G | delins | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 11 | 2885041 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2883997 | splice donor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2885018 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 2 | 1999 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 2885281 | missense variant | G/A;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||||
|
1.000 | 0.040 | 11 | 2885332 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 2 | 1999 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 2885456 | start lost | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 2 | 1999 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 2885179 | frameshift variant | AG/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884110 | stop gained | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884843 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884817 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884784 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2885300 | frameshift variant | -/CCAGCTGGAA | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2885294 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2885099 | frameshift variant | TCGAGGCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884854 | frameshift variant | -/GCGGGGGCCGGGGCCGGGGCCGGGG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884727 | frameshift variant | CGGTGCCGGCCG/GCAC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2885351 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 11 | 2884750 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 1997 | 1997 |