RGD:126919193 Rat Genome Database

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Variant: RGD:126919193 -  Homo sapiens

RGD ID: 126919193
RS ID: rs2145854547
ClinVar ID: CV1050225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERBB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 37,881,169
GRCh38 17 39,724,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001382806.1:c.1455+5G>A
NM_001382804.1:c.1665+5G>A
NM_001382805.1:c.2208+1256G>A
NM_001382802.1:c.2235+5G>A
More... 		10/06/2020 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ERBB2
Accession:NM_001382798
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382802
Location:INTRON

Gene Symbol:ERBB2
Accession:XM_047435590
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_004448
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001289936
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382783
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382796
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001289938
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382795
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382789
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382801
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382785
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382800
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001005862
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382782
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382788
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382787
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382792
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382799
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382806
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382803
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382790
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001289937
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382784
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382797
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382805
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382791
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382793
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382804
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382786
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382794
Location:INTRON

Gene Symbol:ERBB2
Accession:NR_110535
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001373092 CLINVAR
dbSNP (RS) rs2145854547 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ERBB2 CLINVAR
OMIM 164870 CLINVAR