Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Ile654Val (p.I654V)
(
ENST00000445658.6,
ENST00000541774.5,
ENST00000584450.5,
ENST00000406381.6,
ENST00000584601.5,
ENST00000269571.10 )
ERBB2 p.Ile654Val (p.I654V) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004448.4(ERBB2):c.1960A>G (p.Ile654Val) AND not provided
- ClinVar Allele ID
- 28913
- ClinVar RefSeq Alternation Syntax
- NM_001382782.1:c.1870A>G
- ClinVar RefSeq Alternation Syntax
- NR_110535.2:n.2198A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382788.1:c.1990A>G
- ClinVar RefSeq Alternation Syntax
- NM_001289936.2:c.1915A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382802.1:c.1702A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382799.1:c.1780A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382798.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382789.1:c.1981A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382801.1:c.1912A>G
- ClinVar RefSeq Alternation Syntax
- NM_004448.4:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382790.1:c.1957A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382806.1:c.1223-632A>G
- ClinVar RefSeq Alternation Syntax
- NM_001005862.3:c.1870A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382791.1:c.1951A>G
- ClinVar RefSeq Alternation Syntax
- NM_001289937.2:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382784.1:c.2077A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382800.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382797.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382804.1:c.1132A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382786.1:c.2077A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382795.1:c.1912A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382796.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382803.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382787.1:c.2035A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382794.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382792.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382805.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382793.1:c.1960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382783.1:c.1870A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382785.1:c.2062A>G
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-01-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001513234
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs