Annotation Detail

Information
Associated Genes
ERBB4
Associated Variants
ERBB4 p.Arg927Gln (p.R927Q) ( ENST00000342788.9, ENST00000436443.5, ENST00000260943.11 )
ERBB4 p.Arg927Gln (p.R927Q) ( ENST00000260943.11, ENST00000342788.9, ENST00000436443.5 )
Associated Disease
amyotrophic lateral sclerosis type 19
Source Database
ClinVar
Description
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) AND Amyotrophic lateral sclerosis type 19
ClinVar Allele ID
75589
ClinVar RefSeq Alternation Syntax
NM_005235.3:c.2780G>A
ClinVar RefSeq Alternation Syntax
NM_001042599.1:c.2780G>A
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/RCV000074382
ClinVar Disease
Amyotrophic lateral sclerosis type 19
Observed Origin Sample
germline
Pubmed
24119685
Drugs