Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A p.Pro81CysfsTer34 (p.P81Cfs*34)
(
ENST00000304494.10,
ENST00000479692.2,
ENST00000494262.5,
ENST00000497750.1,
ENST00000498124.1,
ENST00000498628.6,
ENST00000530628.2,
ENST00000578845.2,
ENST00000579122.1,
ENST00000579755.2 )
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.Leu16ProfsTer9 (p.L16Pfs*9) ( ENST00000579755.2, ENST00000530628.2, ENST00000579122.1, ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6 )
CDKN2A p.Pro81CysfsTer34 (p.P81Cfs*34) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
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.Leu16ProfsTer9 (p.L16Pfs*9) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Pro114Ser (p.P114S) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Pro114Ser (p.P114S) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Val126Asp (p.V126D) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Asp108Tyr (p.D108Y) ( ENST00000578845.2, ENST00000498628.6, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000579122.1, ENST00000579755.2, ENST00000530628.2 )
CDKN2A p.Asp108Asn (p.D108N) ( ENST00000579122.1, ENST00000579755.2, ENST00000498628.6, ENST00000578845.2, ENST00000530628.2, ENST00000498124.1, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1 )
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.Glu69Gly (p.E69G) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Ala60Val (p.A60V) ( ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1 )
CDKN2A p.Ala60Glu (p.A60E) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Met53Ile (p.M53I) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Met53Ile (p.M53I) ( ENST00000579755.2, ENST00000498628.6, ENST00000578845.2, ENST00000494262.5, ENST00000530628.2, ENST00000498124.1, ENST00000497750.1, ENST00000479692.2, ENST00000579122.1, ENST00000304494.10 )
CDKN2A c.151-1G>C ( ENST00000579755.2, ENST00000498124.1, ENST00000497750.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000579122.1 )
CDKN2A p.Gln50Leu (p.Q50L) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Gln50Pro (p.Q50P) ( ENST00000579755.2, ENST00000579122.1, ENST00000498124.1, ENST00000494262.5, ENST00000498628.6, ENST00000304494.10, ENST00000530628.2 )
CDKN2A p.Ile49Thr (p.I49T) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Arg24Pro (p.R24P) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Arg24Gln (p.R24Q) ( ENST00000579122.1, ENST00000579755.2, ENST00000530628.2, ENST00000498124.1, ENST00000304494.10, ENST00000494262.5, ENST00000498628.6 )
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.Val126Asp (p.V126D) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Asp108Tyr (p.D108Y) ( ENST00000497750.1, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Asp108Asn (p.D108N) ( 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.Glu69Gly (p.E69G) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Ala60Val (p.A60V) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Ala60Glu (p.A60E) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Met53Ile (p.M53I) ( ENST00000578845.2, ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2 )
CDKN2A p.Met53Ile (p.M53I) ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A c.151-1G>C ( ENST00000304494.10, ENST00000479692.2, ENST00000494262.5, ENST00000497750.1, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000578845.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Gln50Leu (p.Q50L) ( ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2, ENST00000304494.10, ENST00000494262.5 )
CDKN2A p.Gln50Pro (p.Q50P) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, 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.Arg24Pro (p.R24P) ( ENST00000304494.10, ENST00000494262.5, ENST00000498124.1, ENST00000498628.6, ENST00000530628.2, ENST00000579122.1, ENST00000579755.2 )
CDKN2A p.Arg24Gln (p.R24Q) ( 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.Leu113_Pro114insSer (p.L113_P114insS)
CDKN2A p.Gly45ArgfsTer75 (p.G45Rfs*75)
CDKN2A p.Gly45LysfsTer9 (p.G45Kfs*9)
CDKN2A p.Leu37AlafsTer7 (p.L37Afs*7)
CDKN2A p.Ala17dup (p.A17dup)
CDKN2A p.Pro11_Ser12insGlyGlyGlyGluGlnHisGlyAla (p.P11_S12insGGGEQHGA)
CDKN2A p.Leu113_Pro114insSer (p.L113_P114insS)
CDKN2A p.Gly45ArgfsTer75 (p.G45Rfs*75)
CDKN2A p.Gly45LysfsTer9 (p.G45Kfs*9)
CDKN2A p.Leu37AlafsTer7 (p.L37Afs*7)
CDKN2A p.Ala17dup (p.A17dup)
CDKN2A p.Pro11_Ser12insGlyGlyGlyGluGlnHisGlyAla (p.P11_S12insGGGEQHGA) - Associated Disease
- Neoplastic Syndromes, Hereditary
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.120542883744161
- Year of publication
- NA
Drugs