Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Asp769His (p.D769H)
(
ENST00000269571.10,
ENST00000584450.5,
ENST00000584601.5,
ENST00000406381.6,
ENST00000445658.6,
ENST00000541774.5 )
ERBB2 p.Asp769His (p.D769H) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- Neoplasm of uterine cervix
- Source Database
- ClinVar
- Description
- NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) AND Neoplasm of uterine cervix
- ClinVar Allele ID
- 362870
- ClinVar RefSeq Alternation Syntax
- NM_001382792.1:c.2269G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382791.1:c.2296G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382799.1:c.2125G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382783.1:c.2215G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382806.1:c.1267G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382804.1:c.1477G>C
- ClinVar RefSeq Alternation Syntax
- NM_004448.4:c.2305G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382795.1:c.2257G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382789.1:c.2326G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382782.1:c.2215G>C
- ClinVar RefSeq Alternation Syntax
- NR_110535.2:n.2543G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382787.1:c.2380G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382805.1:c.2208+348G>C
- ClinVar RefSeq Alternation Syntax
- NM_001289937.2:c.2305G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382786.1:c.2386G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382801.1:c.2257G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382800.1:c.2305G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382785.1:c.2407G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382802.1:c.2047G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382797.1:c.2208+348G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382803.1:c.2263G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382790.1:c.2302G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382784.1:c.2422G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382798.1:c.2305G>C
- ClinVar RefSeq Alternation Syntax
- NM_001005862.3:c.2215G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382793.1:c.2263G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382796.1:c.2305G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382788.1:c.2335G>C
- ClinVar RefSeq Alternation Syntax
- NM_001289936.2:c.2260G>C
- ClinVar RefSeq Alternation Syntax
- NM_001382794.1:c.2263G>C
- 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/RCV000444643
- ClinVar Disease
- Neoplasm of uterine cervix
- Observed Origin Sample
- somatic
Drugs