Annotation Detail
Information
- Associated Genes
- ERBB4
- Associated Variants
-
ERBB4 p.Arg1275Trp (p.R1275W)
(
ENST00000260943.11,
ENST00000342788.9,
ENST00000436443.5 )
ERBB4 p.Arg1275Trp (p.R1275W) ( ENST00000260943.11, ENST00000342788.9, ENST00000436443.5 ) - Associated Disease
- amyotrophic lateral sclerosis type 19
- Source Database
- ClinVar
- Description
- NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) AND Amyotrophic lateral sclerosis type 19
- ClinVar Allele ID
- 75590
- ClinVar RefSeq Alternation Syntax
- NM_005235.3:c.3823C>T
- ClinVar RefSeq Alternation Syntax
- NM_001042599.1:c.3775C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-11-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000074383
- ClinVar Disease
- Amyotrophic lateral sclerosis type 19
- Observed Origin Sample
- germline
- Pubmed
- 24119685
Drugs