Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Arg188Cys (p.R188C) ( ENST00000578199.5, ENST00000541774.5, ENST00000584450.5, ENST00000445658.6, ENST00000406381.6, ENST00000269571.10, ENST00000584601.5 )
ERBB2 p.Arg188Cys (p.R188C) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000578199.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_004448.4(ERBB2):c.562C>T (p.Arg188Cys) AND not provided
ClinVar Allele ID
1899796
ClinVar RefSeq Alternation Syntax
NM_001382796.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001289937.2:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382783.1:c.472C>T
ClinVar RefSeq Alternation Syntax
NM_001382800.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001005862.3:c.472C>T
ClinVar RefSeq Alternation Syntax
NM_001382793.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382789.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382801.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001289936.2:c.517C>T
ClinVar RefSeq Alternation Syntax
NM_001382795.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382782.1:c.472C>T
ClinVar RefSeq Alternation Syntax
NM_004448.4:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001289938.2:c.472C>T
ClinVar RefSeq Alternation Syntax
NM_001382791.1:c.553C>T
ClinVar RefSeq Alternation Syntax
NM_001382799.1:c.440-418C>T
ClinVar RefSeq Alternation Syntax
NM_001382792.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382786.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382802.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382798.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382787.1:c.637C>T
ClinVar RefSeq Alternation Syntax
NM_001382805.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382785.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382790.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382804.1:c.74-2488C>T
ClinVar RefSeq Alternation Syntax
NM_001382803.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382797.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NR_110535.2:n.800C>T
ClinVar RefSeq Alternation Syntax
NM_001382794.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382806.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382788.1:c.562C>T
ClinVar RefSeq Alternation Syntax
NM_001382784.1:c.562C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-02-21
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003085002
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs