Annotation Detail
Information
- Associated Genes
- GFAP
- Associated Variants
-
GFAP p.Tyr242Asp (p.Y242D)
(
ENST00000435360.8,
ENST00000588735.3,
ENST00000638281.1,
ENST00000639277.1,
ENST00000253408.11 )
GFAP p.Tyr242Asp (p.Y242D) ( ENST00000253408.11, ENST00000435360.8, ENST00000588735.3, ENST00000638281.1, ENST00000639277.1 ) - Associated Disease
- Alexander disease
- Source Database
- ClinVar
- Description
- NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) AND Alexander disease
- ClinVar Allele ID
- 77396
- ClinVar RefSeq Alternation Syntax
- NM_001131019.3:c.724T>G
- ClinVar RefSeq Alternation Syntax
- NM_002055.5:c.724T>G
- ClinVar RefSeq Alternation Syntax
- NM_001242376.3:c.724T>G
- ClinVar RefSeq Alternation Syntax
- NM_001363846.2:c.724T>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000192138
- ClinVar Disease
- Alexander disease
- Observed Origin Sample
- germline
Drugs