Annotation Detail

Information

Associated Genes: MAPT
Associated Variants: MAPT p.Asn671Lys (p.N671K) ( ENST00000334239.12, ENST00000574436.5, ENST00000415613.6, ENST00000344290.10, ENST00000262410.10, ENST00000446361.7, ENST00000431008.7, ENST00000535772.6, ENST00000420682.7, ENST00000351559.10, ENST00000571987.5, ENST00000680674.1 )
MAPT p.Asn671Lys (p.N671K) ( ENST00000262410.10, ENST00000446361.7, ENST00000351559.10, ENST00000344290.10, ENST00000334239.12, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1 )
Associated Disease: frontotemporal dementia
Source Database: ClinVar
Description: NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND Frontotemporal dementia
ClinVar Allele ID: 29292
ClinVar RefSeq Alternation Syntax: NM_001203251.2:c.736-3919T>G
ClinVar RefSeq Alternation Syntax: NM_005910.6:c.837T>G
ClinVar RefSeq Alternation Syntax: NM_001123067.4:c.750T>G
ClinVar RefSeq Alternation Syntax: NM_001377265.1:c.2013T>G
ClinVar RefSeq Alternation Syntax: NM_001377266.1:c.1801-3919T>G
ClinVar RefSeq Alternation Syntax: NM_001203252.2:c.823-3919T>G
ClinVar RefSeq Alternation Syntax: NM_016835.5:c.1788T>G
ClinVar RefSeq Alternation Syntax: NM_001377268.1:c.649-3919T>G
ClinVar RefSeq Alternation Syntax: NM_016841.5:c.649-3919T>G
ClinVar RefSeq Alternation Syntax: NM_001377267.1:c.736-3919T>G
ClinVar RefSeq Alternation Syntax: NM_001123066.4:c.1842T>G
ClinVar RefSeq Alternation Syntax: NM_016834.5:c.663T>G
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2024-01-27
Clinical Significance Review Status: criteria provided, single submitter
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000015322
ClinVar Disease: Frontotemporal dementia
Observed Origin Sample: germline
Pubmed: 15365985
Pubmed: 1416801
Pubmed: 9789048
Pubmed: 10802785
Pubmed: 10822460
Pubmed: 12473774
Pubmed: 10489057
Pubmed: 16219306
Pubmed: 10412802

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