Annotation Detail
Information
- Associated Genes
- APP
- Associated Variants
-
APP p.Ala713Thr (p.A713T)
(
ENST00000346798.8,
ENST00000348990.9,
ENST00000354192.7,
ENST00000357903.7,
ENST00000358918.7,
ENST00000359726.7,
ENST00000439274.6,
ENST00000440126.7 )
APP p.Ala713Thr (p.A713T) ( ENST00000346798.8, ENST00000348990.9, ENST00000354192.7, ENST00000357903.7, ENST00000358918.7, ENST00000359726.7, ENST00000439274.6, ENST00000440126.7 ) - Associated Disease
- Cerebral amyloid angiopathy, APP-related
- Source Database
- ClinVar
- Description
- NM_000484.4(APP):c.2137G>A (p.Ala713Thr) AND Cerebral amyloid angiopathy, APP-related
- ClinVar Allele ID
- 33133
- ClinVar RefSeq Alternation Syntax
- NM_001385253.1:c.1969G>A
- ClinVar RefSeq Alternation Syntax
- NM_201414.3:c.1912G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204302.2:c.2026G>A
- ClinVar RefSeq Alternation Syntax
- NM_001136129.3:c.1744G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204303.2:c.1858G>A
- ClinVar RefSeq Alternation Syntax
- NM_001136016.3:c.2065G>A
- ClinVar RefSeq Alternation Syntax
- NM_001136131.3:c.1807G>A
- ClinVar RefSeq Alternation Syntax
- NM_000484.4:c.2137G>A
- ClinVar RefSeq Alternation Syntax
- NM_001204301.2:c.2083G>A
- ClinVar RefSeq Alternation Syntax
- NM_201413.3:c.2080G>A
- ClinVar RefSeq Alternation Syntax
- NM_001136130.3:c.1969G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002272025
- ClinVar Disease
- Cerebral amyloid angiopathy, APP-related
- Observed Origin Sample
- germline
Drugs