Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Val842Ile (p.V842I)
(
ENST00000584450.5,
ENST00000269571.10,
ENST00000406381.6,
ENST00000445658.6,
ENST00000541774.5,
ENST00000584601.5 )
ERBB2 p.Val842Ile (p.V842I) ( ENST00000541774.5, ENST00000584450.5, ENST00000584601.5, ENST00000269571.10, ENST00000406381.6, ENST00000445658.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) AND not provided
- ClinVar Allele ID
- 362873
- ClinVar RefSeq Alternation Syntax
- NM_001005862.3:c.2434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382797.1:c.2425G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382784.1:c.2641G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382787.1:c.2599G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382790.1:c.2521G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382802.1:c.2266G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382796.1:c.2524G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382800.1:c.2338G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382791.1:c.2515G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382792.1:c.2488G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382803.1:c.2482G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382788.1:c.2554G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382782.1:c.2434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382804.1:c.1696G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382793.1:c.2482G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382794.1:c.2482G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382795.1:c.2476G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382799.1:c.2344G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382798.1:c.2493+168G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382783.1:c.2434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382805.1:c.2208+1419G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289936.2:c.2479G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382789.1:c.2545G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382801.1:c.2445+168G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382785.1:c.2626G>A
- ClinVar RefSeq Alternation Syntax
- NR_110535.2:n.2762G>A
- ClinVar RefSeq Alternation Syntax
- NM_004448.4:c.2524G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289937.2:c.2524G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382806.1:c.1486G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382786.1:c.2605G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001861475
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs