Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Ile655Val (p.I655V) ( ENST00000445658.6, ENST00000584601.5, ENST00000541774.5, ENST00000584450.5, ENST00000269571.10, ENST00000406381.6 )
ERBB2 p.Ile655Val (p.I655V) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val) AND not specified
ClinVar Allele ID
28912
ClinVar RefSeq Alternation Syntax
NM_001382790.1:c.1960A>G
ClinVar RefSeq Alternation Syntax
NM_001382791.1:c.1954A>G
ClinVar RefSeq Alternation Syntax
NM_001382796.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382798.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001005862.3:c.1873A>G
ClinVar RefSeq Alternation Syntax
NM_001382806.1:c.1223-629A>G
ClinVar RefSeq Alternation Syntax
NM_001382797.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382804.1:c.1135A>G
ClinVar RefSeq Alternation Syntax
NM_001382792.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382794.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382795.1:c.1915A>G
ClinVar RefSeq Alternation Syntax
NM_001382803.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382784.1:c.2080A>G
ClinVar RefSeq Alternation Syntax
NM_001382805.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382783.1:c.1873A>G
ClinVar RefSeq Alternation Syntax
NM_001382785.1:c.2065A>G
ClinVar RefSeq Alternation Syntax
NR_110535.2:n.2201A>G
ClinVar RefSeq Alternation Syntax
NM_001382786.1:c.2080A>G
ClinVar RefSeq Alternation Syntax
NM_001382793.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382788.1:c.1993A>G
ClinVar RefSeq Alternation Syntax
NM_001382782.1:c.1873A>G
ClinVar RefSeq Alternation Syntax
NM_001382787.1:c.2038A>G
ClinVar RefSeq Alternation Syntax
NM_001382799.1:c.1783A>G
ClinVar RefSeq Alternation Syntax
NM_001289936.2:c.1918A>G
ClinVar RefSeq Alternation Syntax
NM_001382802.1:c.1705A>G
ClinVar RefSeq Alternation Syntax
NM_001382800.1:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382801.1:c.1915A>G
ClinVar RefSeq Alternation Syntax
NM_001289937.2:c.1963A>G
ClinVar RefSeq Alternation Syntax
NM_001382789.1:c.1984A>G
ClinVar RefSeq Alternation Syntax
NM_004448.4:c.1963A>G
Clinical Significance Description
not provided
Clinical Significance Last Update
2013-09-19
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000120744
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs