Annotation Detail

Information

Associated Genes: MAPT
Associated Variants: MAPT p.Pro693Leu (p.P693L) ( ENST00000431008.7, ENST00000446361.7, ENST00000262410.10, ENST00000415613.6, ENST00000574436.5, ENST00000334239.12, ENST00000420682.7, ENST00000571987.5, ENST00000351559.10, ENST00000344290.10, ENST00000535772.6, ENST00000680674.1 )
MAPT p.Pro693Leu (p.P693L) ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1 )
Associated Disease: Supranuclear palsy, progressive, 1
Source Database: ClinVar
Description: NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND Supranuclear palsy, progressive, 1
ClinVar Allele ID: 29284
ClinVar RefSeq Alternation Syntax: NM_001123067.4:c.815C>T
ClinVar RefSeq Alternation Syntax: NM_001377268.1:c.649-3854C>T
ClinVar RefSeq Alternation Syntax: NM_016841.5:c.649-3854C>T
ClinVar RefSeq Alternation Syntax: NM_001377265.1:c.2078C>T
ClinVar RefSeq Alternation Syntax: NM_001203251.2:c.736-3854C>T
ClinVar RefSeq Alternation Syntax: NM_016835.5:c.1853C>T
ClinVar RefSeq Alternation Syntax: NM_001377266.1:c.1801-3854C>T
ClinVar RefSeq Alternation Syntax: NM_001377267.1:c.736-3854C>T
ClinVar RefSeq Alternation Syntax: NM_005910.6:c.902C>T
ClinVar RefSeq Alternation Syntax: NM_001203252.2:c.823-3854C>T
ClinVar RefSeq Alternation Syntax: NM_001123066.4:c.1907C>T
ClinVar RefSeq Alternation Syntax: NM_016834.5:c.728C>T
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2009-07-14
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV002508757
ClinVar Disease: Supranuclear palsy, progressive, 1
Observed Origin Sample: germline
Pubmed: 8673924
Pubmed: 9629852
Pubmed: 17526496
Pubmed: 10767321
Pubmed: 9789048
Pubmed: 19458322
Pubmed: 15831501
Pubmed: 11402146
Pubmed: 11255441

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