Annotation Detail
Information
- Associated Genes
- APP
- Associated Variants
-
APP p.Gly611= (p.G611=)
(
ENST00000440126.7,
ENST00000359726.7,
ENST00000346798.8,
ENST00000354192.7,
ENST00000358918.7,
ENST00000357903.7,
ENST00000439274.6,
ENST00000348990.9 )
APP p.Gly611= (p.G611=) ( 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.1833A>G (p.Gly611=) AND Alzheimer disease
- ClinVar Allele ID
- 694613
- ClinVar RefSeq Alternation Syntax
- NM_001136131.3:c.1503A>G
- ClinVar RefSeq Alternation Syntax
- NM_001204302.2:c.1776A>G
- ClinVar RefSeq Alternation Syntax
- NM_001136130.3:c.1665A>G
- ClinVar RefSeq Alternation Syntax
- NM_201413.3:c.1776A>G
- ClinVar RefSeq Alternation Syntax
- NM_001136016.3:c.1761A>G
- ClinVar RefSeq Alternation Syntax
- NM_001204303.2:c.1608A>G
- ClinVar RefSeq Alternation Syntax
- NM_001136129.3:c.1440A>G
- ClinVar RefSeq Alternation Syntax
- NM_001385253.1:c.1665A>G
- ClinVar RefSeq Alternation Syntax
- NM_201414.3:c.1608A>G
- ClinVar RefSeq Alternation Syntax
- NM_001204301.2:c.1833A>G
- ClinVar RefSeq Alternation Syntax
- NM_000484.4:c.1833A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002064752
- ClinVar Disease
- Alzheimer disease
- Observed Origin Sample
- germline
Drugs