Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Val729Met (p.V729M)
(
ENST00000262410.10,
ENST00000446361.7,
ENST00000415613.6,
ENST00000535772.6,
ENST00000574436.5,
ENST00000344290.10,
ENST00000334239.12,
ENST00000680674.1,
ENST00000420682.7,
ENST00000431008.7,
ENST00000571987.5,
ENST00000351559.10 )
MAPT p.Val729Met (p.V729M) ( 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.2185G>A (p.Val729Met) AND Frontotemporal dementia
- ClinVar Allele ID
- 29291
- ClinVar RefSeq Alternation Syntax
- NM_016834.5:c.835G>A
- ClinVar RefSeq Alternation Syntax
- NM_016835.5:c.1960G>A
- ClinVar RefSeq Alternation Syntax
- NM_016841.5:c.742G>A
- ClinVar RefSeq Alternation Syntax
- NR_165166.1:n.840G>A
- ClinVar RefSeq Alternation Syntax
- NM_001123066.4:c.2014G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377266.1:c.1894G>A
- ClinVar RefSeq Alternation Syntax
- NM_001203252.2:c.916G>A
- ClinVar RefSeq Alternation Syntax
- NM_001203251.2:c.829G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377265.1:c.2185G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377267.1:c.771+4351G>A
- ClinVar RefSeq Alternation Syntax
- NM_005910.6:c.1009G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377268.1:c.742G>A
- ClinVar RefSeq Alternation Syntax
- NM_001123067.4:c.922G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-11-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015321
- ClinVar Disease
- Frontotemporal dementia
- Observed Origin Sample
- germline
- Pubmed
- 8673924
- Pubmed
- 9629852
- Pubmed
- 11255441
- Pubmed
- 11402146
- Pubmed
- 31542321
Drugs