RGD:126746972 Rat Genome Database

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Variant: RGD:126746972 -  Homo sapiens

RGD ID: 126746972
RS ID: rs1785427017
ClinVar ID: CV1028059
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGFR  LOC126860048  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 55,224,219
GRCh38 7 55,156,526
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007726.3:g.142495T>A
NC_000007.14:g.55156526T>A
NC_000007.13:g.55224219T>A
NM_001346898.2:c.1007-7T>A
More... 		01/02/2020 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
lung cancer  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:EGFR
Accession:NM_001346900
Location:INTRON

Gene Symbol:EGFR
Accession:NM_201283
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346941
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346898
Location:INTRON

Gene Symbol:EGFR
Accession:XM_047419952
Location:INTRON

Gene Symbol:EGFR
Accession:NM_201282
Location:INTRON

Gene Symbol:EGFR
Accession:XM_047419953
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346897
Location:INTRON

Gene Symbol:EGFR
Accession:NM_201284
Location:INTRON

Gene Symbol:EGFR
Accession:NM_005228
Location:INTRON

Gene Symbol:EGFR
Accession:NM_001346899
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001337407 CLINVAR
dbSNP (RS) rs1785427017 CLINVAR
MedGen CN130014 CLINVAR
NCBI Gene EGFR CLINVAR
  LOC126860048 CLINVAR
OMIM 131550 CLINVAR