Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Pro693Ser (p.P693S)
(
ENST00000334239.12,
ENST00000574436.5,
ENST00000415613.6,
ENST00000571987.5,
ENST00000344290.10,
ENST00000420682.7,
ENST00000351559.10,
ENST00000535772.6,
ENST00000446361.7,
ENST00000431008.7,
ENST00000262410.10,
ENST00000680674.1 )
MAPT p.Pro693Ser (p.P693S) ( 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
- frontotemporal dementia
- Source Database
- ClinVar
- Description
- NM_001377265.1(MAPT):c.2077C>T (p.Pro693Ser) AND Frontotemporal dementia
- ClinVar Allele ID
- 29295
- ClinVar RefSeq Alternation Syntax
- NM_001377268.1:c.649-3855C>T
- ClinVar RefSeq Alternation Syntax
- NM_016841.5:c.649-3855C>T
- ClinVar RefSeq Alternation Syntax
- NM_016835.5:c.1852C>T
- ClinVar RefSeq Alternation Syntax
- NM_001123067.4:c.814C>T
- ClinVar RefSeq Alternation Syntax
- NM_001203251.2:c.736-3855C>T
- ClinVar RefSeq Alternation Syntax
- NM_001377266.1:c.1801-3855C>T
- ClinVar RefSeq Alternation Syntax
- NM_001377267.1:c.736-3855C>T
- ClinVar RefSeq Alternation Syntax
- NM_005910.6:c.901C>T
- ClinVar RefSeq Alternation Syntax
- NM_001203252.2:c.823-3855C>T
- ClinVar RefSeq Alternation Syntax
- NM_001377265.1:c.2077C>T
- ClinVar RefSeq Alternation Syntax
- NM_001123066.4:c.1906C>T
- ClinVar RefSeq Alternation Syntax
- NM_016834.5:c.727C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015325
- ClinVar Disease
- Frontotemporal dementia
- Observed Origin Sample
- germline
- Pubmed
- 12796837
- Pubmed
- 10374757
- Pubmed
- 11071507
- Pubmed
- 16240366
- Pubmed
- 12722177
- Pubmed
- 10553987
Drugs