Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Gly781Arg (p.G781R)
(
ENST00000420682.7,
ENST00000680674.1,
ENST00000334239.12,
ENST00000571987.5,
ENST00000351559.10,
ENST00000262410.10,
ENST00000431008.7,
ENST00000415613.6,
ENST00000446361.7,
ENST00000344290.10,
ENST00000574436.5,
ENST00000535772.6 )
MAPT p.Gly781Arg (p.G781R) ( ENST00000571987.5, ENST00000574436.5, ENST00000680674.1, ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg) AND not provided
- ClinVar Allele ID
- 29294
- ClinVar RefSeq Alternation Syntax
- NM_001377267.1:c.772-1107G>A
- ClinVar RefSeq Alternation Syntax
- NM_016834.5:c.991G>A
- ClinVar RefSeq Alternation Syntax
- NM_001123066.4:c.2170G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377266.1:c.2050G>A
- ClinVar RefSeq Alternation Syntax
- NM_016835.5:c.2116G>A
- ClinVar RefSeq Alternation Syntax
- NM_001203252.2:c.1072G>A
- ClinVar RefSeq Alternation Syntax
- NM_005910.6:c.1165G>A
- ClinVar RefSeq Alternation Syntax
- NM_001123067.4:c.1078G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377268.1:c.898G>A
- ClinVar RefSeq Alternation Syntax
- NR_165166.1:n.996G>A
- ClinVar RefSeq Alternation Syntax
- NM_001203251.2:c.985G>A
- ClinVar RefSeq Alternation Syntax
- NM_016841.5:c.898G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377265.1:c.2341G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-05-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000517183
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs