RGD:28906344 Rat Genome Database

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Variant: RGD:28906344 -  Homo sapiens

RGD ID: 28906344
RS ID: rs1310299341
ClinVar ID: CV866041
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EGR2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 64,572,888
GRCh38 10 62,813,128
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136178.2:c.*79C>A
LRG_239t1:c.*79C>A
NM_000399.5:c.*79C>A
NM_001136177.3:c.*79C>A
More... 		01/13/2018 3 prime utr variant uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 1d; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D; CMT 1D; Hereditary motor and sensory neuropathy 1D; HMSN 1D; HMSN ID
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001136178
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001136179
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001136177
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001410931
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_000399
Location:3UTRS;EXON

Gene Symbol:EGR2
Accession:NM_001321037
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106594 CLINVAR
dbSNP (RS) rs1310299341 CLINVAR
MedGen C1843247 CLINVAR
NCBI Gene EGR2 CLINVAR
OMIM 129010 CLINVAR
  607678 CLINVAR