Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Ala76CysfsTer64 (p.A76Cfs*64)
(
ENST00000498124.1,
ENST00000578845.2,
ENST00000498628.6,
ENST00000579122.1,
ENST00000530628.2,
ENST00000579755.2,
ENST00000304494.10,
ENST00000479692.2,
ENST00000494262.5,
ENST00000497750.1 )
CDKN2A p.Ala76CysfsTer64 (p.A76Cfs*64) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Glu153Ter (p.E153*) ( ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000498628.6, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1 )
CDKN2A p.Glu153Lys (p.E153K) ( ENST00000579122.1, ENST00000578845.2, ENST00000498628.6, ENST00000579755.2, ENST00000530628.2, ENST00000498124.1, ENST00000497750.1, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5 )
CDKN2A p.Gly101Trp (p.G101W) ( ENST00000498124.1, ENST00000497750.1, ENST00000579122.1, ENST00000494262.5, ENST00000579755.2, ENST00000530628.2, ENST00000498628.6, ENST00000578845.2, ENST00000304494.10, ENST00000479692.2 )
CDKN2A p.Gly101Arg (p.G101R) ( ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5 )
CDKN2A p.Gly89Asp (p.G89D) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Ile49Thr (p.I49T) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Pro48Ser (p.P48S) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Pro48Thr (p.P48T) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A c.-34G>T ( ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579755.2 )
CDKN2A c.-34G>C ( ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579755.2 )
CDKN2A p.Glu153Ter (p.E153*) ( ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6 )
CDKN2A p.Glu153Lys (p.E153K) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Gly101Trp (p.G101W) ( ENST00000304494.10, ENST00000498628.6, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000530628.2 )
CDKN2A p.Gly101Arg (p.G101R) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Gly89Asp (p.G89D) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Ile49Thr (p.I49T) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Pro48Ser (p.P48S) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Pro48Thr (p.P48T) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A c.-34G>T ( ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579755.2 )
CDKN2A c.-34G>C ( ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579755.2 )
CDKN2A p.Pro11_Ser12insGlyGlyGlyGluGlnHisGlyAla (p.P11_S12insGGGEQHGA)
CDKN2A p.Pro11_Ser12insGlyGlyGlyGluGlnHisGlyAla (p.P11_S12insGGGEQHGA) - Associated Disease
- Hereditary Melanoma
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.145439591105428
- Year of publication
- NA
Drugs