CTNS, cystinosin, lysosomal cystine transporter, 1497
N. diseases: 88; N. variants: 71
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 17 | 3659927 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 17 | 3659926 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
1.000 | 0.080 | 17 | 3659875 | stop gained | C/G;T | snv | 3.2E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.925 | 0.080 | 17 | 3659856 | splice acceptor variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2002 | 2003 | |||||||
|
0.925 | 0.080 | 17 | 3659855 | splice region variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 3658130 | inframe deletion | CCT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 1999 | 2014 | ||||||||
|
0.851 | 0.160 | 17 | 3658082 | frameshift variant | GGGAGTGACCACGTGGCTGCAGT/- | delins | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||||
|
1.000 | 0.080 | 17 | 3658018 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 3656727 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 1998 | 2012 | ||||||
|
1.000 | 0.080 | 17 | 3656725 | inframe deletion | ACG/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 1998 | 2004 | |||||||
|
0.851 | 0.160 | 17 | 3656703 | missense variant | G/A | snv | 5.6E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 1999 | 2001 | ||||||
|
1.000 | 0.080 | 17 | 3656586 | splice donor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1998 | 1998 | ||||||||
|
0.851 | 0.160 | 17 | 3656573 | splice donor variant | AAGGTACGGCCTTGCCTGCCCTACATC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 1999 | 2001 | ||||||||
|
0.925 | 0.080 | 17 | 3656569 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 17 | 3656498 | missense variant | T/C | snv | 4.0E-05 | 3.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 17 | 3655313 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.160 | 17 | 3655307 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 1999 | 2009 | ||||||
|
0.827 | 0.160 | 17 | 3655305 | stop gained | G/A | snv | 4.8E-05 | 9.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.710 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.882 | 0.160 | 17 | 3655304 | stop gained | G/A;C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.080 | 17 | 3655288 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 17 | 3655273 | stop gained | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 1998 | 2013 | |||||||
|
1.000 | 0.080 | 17 | 3655063 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 17 | 3648936 | splice region variant | GT/CC | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 1999 | 2003 | ||||||||
|
1.000 | 0.080 | 17 | 3648905 | inframe deletion | ATTACTATCCTTGAGCTCCCC/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 1998 | 2011 | ||||||||
|
0.925 | 0.080 | 17 | 3648904 | inframe deletion | TATTACTATCCTTGAGCTCCC/- | del | 2.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 1998 | 2016 |