Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Thr122Arg (p.T122R), PSEN2 p.Thr122Arg (p.T122R)
(
ENST00000676945.1,
ENST00000677599.1,
ENST00000366783.8,
ENST00000679088.1,
ENST00000472139.2,
ENST00000422240.6,
ENST00000678320.1,
ENST00000626989.3,
ENST00000366782.6,
ENST00000677880.1,
ENST00000677414.1 )
ENSG00000288674 p.Thr122Arg (p.T122R), PSEN2 p.Thr122Arg (p.T122R) ( ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1, ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000447.3(PSEN2):c.365C>G (p.Thr122Arg) AND not provided
- ClinVar Allele ID
- 23890
- ClinVar RefSeq Alternation Syntax
- NM_000447.3:c.365C>G
- ClinVar RefSeq Alternation Syntax
- NM_012486.3:c.365C>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000084579
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs