Annotation Detail
Information
- Associated Genes
- APP
- Associated Variants
-
APP p.Gly708= (p.G708=)
(
ENST00000440126.7,
ENST00000346798.8,
ENST00000348990.9,
ENST00000354192.7,
ENST00000357903.7,
ENST00000358918.7,
ENST00000359726.7,
ENST00000439274.6 )
APP p.Gly708= (p.G708=) ( ENST00000346798.8, ENST00000348990.9, ENST00000354192.7, ENST00000357903.7, ENST00000358918.7, ENST00000359726.7, ENST00000439274.6, ENST00000440126.7 ) - Associated Disease
- Alzheimer disease
- Source Database
- ClinVar
- Description
- NM_000484.4(APP):c.2124C>T (p.Gly708=) AND Alzheimer disease
- ClinVar Allele ID
- 350521
- ClinVar RefSeq Alternation Syntax
- NM_001385253.1:c.1956C>T
- ClinVar RefSeq Alternation Syntax
- NM_001136129.3:c.1731C>T
- ClinVar RefSeq Alternation Syntax
- NM_001136131.3:c.1794C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204303.2:c.1845C>T
- ClinVar RefSeq Alternation Syntax
- NM_201414.3:c.1899C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204301.2:c.2070C>T
- ClinVar RefSeq Alternation Syntax
- NM_001136016.3:c.2052C>T
- ClinVar RefSeq Alternation Syntax
- NM_201413.3:c.2067C>T
- ClinVar RefSeq Alternation Syntax
- NM_000484.4:c.2124C>T
- ClinVar RefSeq Alternation Syntax
- NM_001136130.3:c.1956C>T
- ClinVar RefSeq Alternation Syntax
- NM_001204302.2:c.2013C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001082457
- ClinVar Disease
- Alzheimer disease
- Observed Origin Sample
- germline
Drugs