Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Arg678Gln (p.R678Q)
(
ENST00000584450.5,
ENST00000584601.5,
ENST00000269571.10,
ENST00000406381.6,
ENST00000445658.6,
ENST00000541774.5 )
ERBB2 p.Arg678Gln (p.R678Q) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- Malignant neoplasm of body of uterus
- Source Database
- ClinVar
- Description
- NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) AND Malignant neoplasm of body of uterus
- ClinVar Allele ID
- 363223
- ClinVar RefSeq Alternation Syntax
- NM_001289937.2:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382790.1:c.2030G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382786.1:c.2150G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382791.1:c.2024G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382800.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001005862.3:c.1943G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382805.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382793.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382792.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382803.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_004448.4:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382799.1:c.1853G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382794.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382788.1:c.2063G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382801.1:c.1985G>A
- ClinVar RefSeq Alternation Syntax
- NR_110535.2:n.2271G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382795.1:c.1985G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382797.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382806.1:c.1223-559G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382804.1:c.1205G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382796.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382798.1:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289936.2:c.1988G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382784.1:c.2150G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382787.1:c.2108G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382783.1:c.1943G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382785.1:c.2135G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382802.1:c.1775G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382782.1:c.1943G>A
- ClinVar RefSeq Alternation Syntax
- NM_001382789.1:c.2054G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000417832
- ClinVar Disease
- Malignant neoplasm of body of uterus
- Observed Origin Sample
- somatic
Drugs